Journal articles: 'Chromosomal abnormalities'

1

Vorsanova, Svetlana G., Alexei D. Kolotii, Ivan Y. Iourov, Viktor V. Monakhov, Elena A. Kirillova, Ilia V. Soloviev, and Yuri B. Yurov. "Evidence for High Frequency of Chromosomal Mosaicism in Spontaneous Abortions Revealed by Interphase FISH Analysis." Journal of Histochemistry & Cytochemistry 53, no. 3 (March 2005): 375–80. http://dx.doi.org/10.1369/jhc.4a6424.2005.

Full text

Abstract:

Numerical chromosomal imbalances are a common feature of spontaneous abortions. However, the incidence of mosaic forms of chromosomal abnormalities has not been evaluated. We have applied interphase multicolor fluorescence in situ hybridization using original DNA probes for chromosomes 1, 9, 13, 14, 15, 16, 18, 21, 22, X, and Y to study chromosomal abnormalities in 148 specimens of spontaneous abortions. We have detected chromosomal abnormalities in 89/148 (60.1%) of specimens. Among them, aneuploidy was detected in 74 samples (83.1%). In the remaining samples, polyploidy was detected. The mosaic forms of chromosome abnormality, including autosomal and sex chromosomal aneuploidies and polyploidy (31 and 12 cases, respectively), were observed in 43/89 (48.3%) of specimens. The most frequent mosaic form of aneuploidy was related to chromosome X (19 cases). The frequency of mosaic forms of chromosomal abnormalities in samples with male chromosomal complement was 50% (16/32 chromosomally abnormal), and in samples with female chromosomal complement, it was 47.4% (27/57 chromosomally abnormal). The present study demonstrates that the postzygotic or mitotic errors leading to chromosomal mosaicism in spontaneous abortions are more frequent than previously suspected. Chromosomal mosaicsm may contribute significantly to both pregnancy complications and spontaneous fetal loss.

APA, Harvard, Vancouver, ISO, and other styles

2

R, Lakshmi Prabha Subhash, Anupama D, Jayarama S. Kadandale, Meenakshi Bhat, Harshal K L, and Khizer Hussain Afroze M. "CONSANGUINITY AND CHROMOSOMAL ABNORMALITIES." International Journal of Anatomy and Research 5, no. 4.1 (October 1, 2017): 4531–37. http://dx.doi.org/10.16965/ijar.2017.393.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Dzitsiuk, V. V., and H. T. Tipilo. "CHROMOSOMAL ABNORMALITIES SHEEP." Animal Breeding and Genetics 53 (April 27, 2017): 209–14. http://dx.doi.org/10.31073/abg.53.28.

Full text

Abstract:

Successful and creative plant-breeding work in a stock-raising is based on the estimation of genetic potential of separate breeds, herds and individuals, that is impossible without thorough genetic- populations knowledge. Knowledge of features of caryotype gives an opportunity objectively to estimate the breeds of animals taking into account their population-cytogenetic features, that assists more complete idea about the evolution of breeds. However such important agricultural object, as a domestic sheep, remains cytogenetic poorly studied, especially in a population-cytogenetic aspect.In literature different breeds have small information about frequency and spectrum of the inherited anomalies and populations of sheep. Most chromosomal and genic anomalies of sheep in general not research, although for practice of plant-breeding work necessary knowledge of reasons of their appearance. Caryotype of sheep is presented by 54 chromosomes, from them 26 pairs of autsom and one pair of sexual chromosomes (ХХ or ХУ). Three pairs of large metacentric and 23 pairs of acrocentric chromosomes of different size enter in the complement of autsom. For sheep as well as for other animals characteristic chromosomal polymorphism as a numerical varying of chromosomes in caryotype (aneuploidi and poliploidi), morphological aberations and associations of separate chromosomes. Chromosomal anomalies of sheep are reason of forming of nonviable gamet, that results in death of embryos on the early stages, and, as a result, to the considerable economic losses in economies. The facts of chromosomal aberation educed for sheep testify to the necessity of cytogenetic control of tribal animals, especially rams, with the aim of exposure of animals-transmitters of undesirable changes in caryotype and exception of them from a plant-breeding process.

APA, Harvard, Vancouver, ISO, and other styles

4

Salaskar, Vidya, Gauri Pradhan, Anurita Pais, Chaitali Kadam, and Sunmeet Matkar. "Evaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India." International Journal of Research in Medical Sciences 5, no. 12 (November 25, 2017): 5293. http://dx.doi.org/10.18203/2320-6012.ijrms20175443.

Full text

Abstract:

Background: Structural and numerical chromosomal aberrations contribute significantly to genetic disease. Unbalanced aberrations are associated with congenital anomalies, mental retardation and underdevelopment of secondary sexual characters while balanced structural chromosomal abnormalities contribute to an increased risk for infertility, bad obstetric history and chromosomally unbalanced offspring with multiple congenital abnormalities and intellectual impairment. Aim of the current study was to determine the prevalence and characterization of cytogenetic aberrations in 8445 cases referred during the years 2010-2013 for cytogenetic evaluation.Methods: Metaphase chromosomes from 72-hour blood lymphocyte culture were prepared for Giemsa-Trypsin-G banding. Characterization of marker chromosomes were done by M-FISH and subtle chromosomal aberrations were evaluated by targeted FISH using centromeric probes for chromosome 13,18,21, X and Y and loci specific probes for microdeletion syndromes and SRY gene.Results: Variant forms of trisomies i.e. partial trisomies were seen in cases with Edwards and Patau syndrome. Sex chromosomal abnormalities associated with puberty and reproductive problems were seen in cases with Turner syndrome, Klinefelter syndrome and also in females with primary amenorrhea. Autosomal reciprocal translocations were the most common chromosomal changes in couples with recurrent abortions. In order to increase the diagnostic yield and evaluate variations, FISH and m-FISH were additional tests done to characterize the genetic variations.Conclusions: Along with Karyotyping SRY, XIST, SHOX9 gene analysis and Y microdeletion analysis are also critial tests to assess the possibilities for normal development or assisted reproduction in individuals with sex chromosomal abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

5

Pazarbaşi, A., M. Kasap, O. Demirhan, M. Vardar, D. Suleymanova-Karahan, and F. Doran. "Chromosomal Abnormalities in Endometrial and Ovarian Carcinomas." Balkan Journal of Medical Genetics 10, no. 2 (January 1, 2007): 61–70. http://dx.doi.org/10.2478/v10034-008-0008-y.

Full text

Abstract:

Chromosomal Abnormalities in Endometrial and Ovarian CarcinomasDevelopment and progression of human malignancies involve multiple genetic changes including chromosomal instabilities such as translocations, deletions, and inversions. Chromosomal abnormalities were observed in 23 cases with ovarian and endometrial cancer by cytogenetic studies using a GTG (G bands by trypsin using Giemsa) banding technique. Specific chromosome bands were frequently involved, and were most frequent on chromosomes 1, 2, 3, 5, 12 and 17. Clonal alterations were observed at the cancer breakpoints, such as 1q21, 1q32, 3p21, 7q22, 11q23 in ovarian and 1p36, 1q32, 2p12, 3p21, 7q22, 9q34, 11p15, 11q23, 12q13, 14q11, 14q32, 16p13, 21q22 in endometrial cases. These findings provide evidence that multiple genetic lesions are associated with the pathogenesis of endometrial and ovarian cancer.

APA, Harvard, Vancouver, ISO, and other styles

6

Dang, Tien-Truong, Thi Mui Phung, Hoang Le, Thi-Bich-Van Nguyen, Thi Sim Nguyen, Thi Lien Huong Nguyen, Vu Thi Nga, Dinh Toi Chu, Van Luong Hoang, and Duy Bac Nguyen. "Preimplantation Genetic Testing of Aneuploidy by Next Generation Sequencing: Association of Maternal Age and Chromosomal Abnormalities of Blastocyst." Open Access Macedonian Journal of Medical Sciences 7, no. 24 (December 20, 2019): 4427–31. http://dx.doi.org/10.3889/oamjms.2019.875.

Full text

Abstract:

BACKGROUND: Aneuploidy is a major cause of miscarriages and implantation failure. Preimplantation genetic testing for aneuploidy (PGT-A) by Next Generation Sequencing (NGS) is able to detect of the numeral and structural chromosomal abnormalities of embryos in vitro fertilization (IVF). AIM: This study was aimed to assess the relationship between maternal age and chromosomal abnormalities NGS technology. METHODS: 603 human trophectoderm (TE) biopsied samples were tested by Veriseq kit of Illumina. The relation of marternal age and chromosomal abnormality of blastocyst embryo was evaluated. RESULTS: Among the 603 TE samples, 247 samples (42.73%) presented as chromosomal abnormalities. The abnormalities occurred to almost chromosomes, and the most popular aneuploidy observed is 22. Aneuploidy rate from 0.87% in chromosome 11 to 6.06% in chromosome 22. The rate of abnormal chromosome increased dramatically in group of mother's ages over 37 (54.17%) comparing to group of mother's ages less than 37 (38.05%) (p < 0.000). The Abnormal chromosome and maternal age has a positive correlation with r = 0.4783 (p<0.0001). CONCLUSION: These results showed high rate abnormal chromosome and correlated with advanced maternal age of blastocyst embryos.

APA, Harvard, Vancouver, ISO, and other styles

7

U., Shivani, Reshma A. Shetty, Suchetha Kumari N., and D. Prashanth Shetty. "Overview of chromosomal translocations associated with chronic myeloid leukemia." Biomedicine 42, no. 6 (December 31, 2022): 1150–55. http://dx.doi.org/10.51248/.v42i6.1858.

Full text

Abstract:

Chronic Myelogenous Leukemia (CML) is a slow progressing condition caused by balanced translocations of chromosomes 9 and 22, also defined as the Philadelphia (Ph)chromosome, containing the BCR-ABL1 oncogene. CML is classified into three stages; the Chronic, the Accelerated and the Blast crisis phase. These phases are associated with chromosomal translocations and secondary changes. Over the years, innovative scientific development in cancer cytogenetics has considerably improved the detection of chromosomal abnormalities. Fluorescence In situ Hybridization (FISH) method allows further identification of chromosomal alterations that karyotyping cannot resolve. Karyotyping is a gold standard technique that provides the human genome overview. This review mainly focuses on further chromosomal abnormalities, biology of CML, pathways, and therapeutic regimens. The study highlights CML subdivisions and the clinical importance of additional chromosomal abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

8

Nunes, Kledson Moraes, Talísia Nascimento Vianez, Denise Corrêa Benzaquem, Natalia Dayane Moura Carvalho, and Cleiton Fantin. "Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report." Scientia Medica 29, no. 4 (December 6, 2019): 34464. http://dx.doi.org/10.15448/1980-6108.2019.4.34464.

Full text

Abstract:

AIMS: To report the first case the concomitance of numerical chromosomal abnormalities with structural as well as chromosomal abnormalities structural in a patient diagnosed with Alzheimer disease in Manaus/Amazonas.CASE DESCRIPTION: A male patient with 76 years of age was diagnosed with diagnosis of cognitive disorder- Alzheimer’s disease with late onset - temporal variant after laboratory, physical and imaging exams. Cytogenetic analysis was requested for this patient, revealing the presence the concomitant of numerical and structural chromosomal abnormalities with metaphase cells composed of 45 chromosomes with the loss of one of the homologues of chromosome 21 (monosomy) and a deletion of the long arm of one of the homologues of chromosome 1 [45, XY, -21, del (1) (q?)] and metaphase cells containing 46 chromosomes with a deletion of the long arm of one of the homologues of chromosome 15 [(46, XY, del (15) (q?)]. Currently, the patient is in outpatient treatment for maintenance and control of the disease.CONCLUSIONS: Our study has underlined that karyotyping is one of the fundamental investigations for patients with Alzheimer’s disease. It highlighted, in the form of a chromosomal abnormality, may have been the risk factor in Alzheimer’s disease.

APA, Harvard, Vancouver, ISO, and other styles

9

Pylyp, L. Y., L. A. Spinenko, V. D. Zukin, and N. M. Bilko. "Хромосомні аномалії у чоловіків із різним ступенем порушення сперматогенезу." Visnyk of Dnipropetrovsk University. Biology, medicine 4, no. 1 (February 21, 2013): 14–22. http://dx.doi.org/10.15421/021303.

Full text

Abstract:

Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6%) patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19), followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9). The frequency of inversions was 0.6% (n = 4). Gonosomal abnormalities included 14 cases of sex chromosome aneuploidy and 2 cases of terminal deletion of Y chromosome. Klinefelter syndrome was detected in 67% of patients with azoospermia. A significant increase in the frequency of numerical chromosomal abnormalities was observed in a group of patients with azoospermia (P < 0.001). No differences were detected in the frequency of structural abnormalities in subgroups of patients. An increase in the frequency of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected with frequency 1.1% in a group of patients with normospermia, 1.9% in a group of patients with asthenozoospermia, 4.3% in patients with asthenoteratozoospermia, 6.5% in patients with oligoasthenozoospermia, 11.6% in patients with oligoasthenoteratozoospermia and 35% in a group of patients with azoospermia. Significant increase of the prevalence of chromosomal abnormalities was detected in subgroups of patients with azoospermia (P < 0.001) and oligozoospermia (P = 0.001) as compared to patients with normozoospermia. These results are considered to be criteria for selection of patients in need of cytogenetic studies before in vitro fertilization cycles because of the highest risk of chromosomal abnormalities detection.

APA, Harvard, Vancouver, ISO, and other styles

10

Eaker, Shannon, April Pyle, John Cobb, and Mary Ann Handel. "Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice." Journal of Cell Science 114, no. 16 (August 15, 2001): 2953–65. http://dx.doi.org/10.1242/jcs.114.16.2953.

Full text

Abstract:

Mice heterozygous for Robertsonian centric fusion chromosomal translocations frequently produce aneuploid sperm. In this study RBJ/Dn× C57BL/6J F1 males, heterozygous for four Robertsonian translocations (2N=36), were analyzed to determine effects on germ cells of error during meiosis. Analysis of sperm by three color fluorescence in situ hybridization revealed significantly elevated aneuploidy, thus validating Robertsonian heterozygous mice as a model for production of chromosomally abnormal gametes. Primary spermatocytes from heterozygous males exhibited abnormalities of chromosome pairing in meiotic prophase and metaphase. In spite of prophase abnormalities, the prophase/metaphase transition occurred. However, an increased frequency of cells with misaligned condensed chromosomes was observed. Cytological analysis of both young and adult heterozygous mice revealed increased apoptosis in spermatocytes during meiotic metaphase I. Metaphase spermatocytes with misaligned chromosomes accounted for a significant proportion of the apoptotic spermatocytes, suggesting that a checkpoint process identifies aberrant meioses. Immunofluorescence staining revealed that kinetochores of chromosomes that failed to align on the spindle stained more intensely for kinetochore antigens CENP-E and CENP-F than did aligned chromosomes. Taken together, these observations are consistent with detection of malattached chromosomes by a meiotic spindle checkpoint mechanism that monitors attachment and/or congression of homologous chromosome pairs. However, the relatively high frequency of gametic aneuploidy suggests that the checkpoint mechanism does not efficiently eliminate all germ cells with chromosomal abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

11

Zhao, Xiaoxi, and Lin Fu. "Efficacy of copy-number variation sequencing technology in prenatal diagnosis." Journal of Perinatal Medicine 47, no. 6 (August 27, 2019): 651–55. http://dx.doi.org/10.1515/jpm-2019-0005.

Full text

Abstract:

Abstract Background Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis. Methods From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq. Results Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq. Conclusion Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

12

Schouten, HC, WG Sanger, M. Duggan, DD Weisenburger, KA MacLennan, and JO Armitage. "Chromosomal abnormalities in Hodgkin's disease." Blood 73, no. 8 (June 1, 1989): 2149–54. http://dx.doi.org/10.1182/blood.v73.8.2149.2149.

Full text

Abstract:

Abstract Numerous neoplastic states have associated or causal cytogenetic abnormalities. In some cancers, specific chromosomal abnormalities appear to correlate with the clinical characteristics and prognosis. Cytogenetic analysis of Hodgkin's disease is thought to be technically difficult and only a small number of cases with evaluable results have been reported. We have attempted cytogenetic studies of lymph nodes from 37 patients with Hodgkin's disease. In 29 of the 37 patients (78%), successful chromosomal analysis was accomplished. Chromosomal abnormalities were found in 13 patients (45%); five of these patients had been previously treated with chemotherapy. Numerical changes were found in all patients, most commonly involving chromosomes 5, 9, 15, 18, 22, X, and marker chromosomes. Seven patients also had structural abnormalities. The breakpoints 4q32–34, 6q24, 12q13, 12q23–24, and 13p11–13 were each seen in at least two patients. All but two patients had an admixture of normal cells. Three patients had two or more clones, and one had subclones. No statistically significant correlations between chromosomal abnormalities and clinical characteristics were demonstrated, although the number of patients in each subgroup was small. We conclude that chromosomal studies of Hodgkin's disease are likely to be successful. Additional studies are needed to correlate the karyotypical abnormalities in Hodgkin's disease with clinical and biological characteristics.

APA, Harvard, Vancouver, ISO, and other styles

13

Schouten, HC, WG Sanger, M. Duggan, DD Weisenburger, KA MacLennan, and JO Armitage. "Chromosomal abnormalities in Hodgkin's disease." Blood 73, no. 8 (June 1, 1989): 2149–54. http://dx.doi.org/10.1182/blood.v73.8.2149.bloodjournal7382149.

Full text

Abstract:

Numerous neoplastic states have associated or causal cytogenetic abnormalities. In some cancers, specific chromosomal abnormalities appear to correlate with the clinical characteristics and prognosis. Cytogenetic analysis of Hodgkin's disease is thought to be technically difficult and only a small number of cases with evaluable results have been reported. We have attempted cytogenetic studies of lymph nodes from 37 patients with Hodgkin's disease. In 29 of the 37 patients (78%), successful chromosomal analysis was accomplished. Chromosomal abnormalities were found in 13 patients (45%); five of these patients had been previously treated with chemotherapy. Numerical changes were found in all patients, most commonly involving chromosomes 5, 9, 15, 18, 22, X, and marker chromosomes. Seven patients also had structural abnormalities. The breakpoints 4q32–34, 6q24, 12q13, 12q23–24, and 13p11–13 were each seen in at least two patients. All but two patients had an admixture of normal cells. Three patients had two or more clones, and one had subclones. No statistically significant correlations between chromosomal abnormalities and clinical characteristics were demonstrated, although the number of patients in each subgroup was small. We conclude that chromosomal studies of Hodgkin's disease are likely to be successful. Additional studies are needed to correlate the karyotypical abnormalities in Hodgkin's disease with clinical and biological characteristics.

APA, Harvard, Vancouver, ISO, and other styles

14

Drach, J., J. Angerler, J. Schuster, C. Rothermundt, R. Thalhammer, OA Haas, U. Jager, M. Fiegl, K. Geissler, and H. Ludwig. "Interphase fluorescence in situ hybridization identifies chromosomal abnormalities in plasma cells from patients with monoclonal gammopathy of undetermined significance." Blood 86, no. 10 (November 15, 1995): 3915–21. http://dx.doi.org/10.1182/blood.v86.10.3915.bloodjournal86103915.

Full text

Abstract:

Karyotypic studies in patients with monoclonal gammopathy of undetermined significance (MGUS) have been hampered by a low percentage of bone marrow plasma cells (BMPC), which are predominantly nonproliferating. By combining cytomorphology and interphase fluorescence in situ hybridization (FISH) we investigated whether or not chromosomal abnormalities occur in BMPC from patients with MGUS. Studying chromosomes 3, 7, 11, and 18, which we found to be frequently aneuploid by FISH in multiple myeloma (MM), we observed three hybridization signals for one of these chromosomes 3 were most common, occurring in 38.9% of patients, followed by gains of chromosomes 11 (25%), 7 (16.7%), and 18 (5.6%) Among BMPC, the frequency of aneuploid cells was 18.9% +/- 13.9% (mean +/- SD) for chromosome 3, 22.3% +/- 9.2% for chromosome 11, 23.2% +/- 22.0% for chromosome 7, and 6.1% +/- 2.3% for chromosome 18. In five patients, chromosomal abnormalities were shown to be restricted to BMPC expressing cytoplasmic immunoglobulins corresponding to the serum paraprotein. No gain of hybridization signals was observed in normal and reactive plasma cells. In one patient with MGUS, metaphase cytogenetics revealed one abnormal metaphase with 47, XY, +4, and trisomy 4 was also demonstrated in a subpopulation of BMPC by interphase FISH. FISH results from patients with MGUS and newly diagnosed MM at stage IA (n = 14) indicated that aberrations involving > or = 2 chromosomes occurred significantly more often in early stage MM (P < .01). With respect to clinical and laboratory features, MGUS patients with and without chromosomal abnormalities were indistinguishable. Our results indicate that MGUS already has the chromosomal characteristics of a plasma cell malignancy.

APA, Harvard, Vancouver, ISO, and other styles

15

Aydin, Cigdem, Zafer Cetin, Ozan Salim, Orhan Kemal Yucel, Levent Undar, and Sibel Berker Karauzum. "Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML." Case Reports in Genetics 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/582016.

Full text

Abstract:

Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which is characterized by the presence of the classical or variant Philadelphia translocations. During the progression to blastic phase of the disease secondary chromosomal abnormalities may emerge. Such secondary chromosomal abnormalities are nonrandom, the more frequent ones being trisomy 8 and 19, supernumerary i(17q), and extra Philadelphia chromosomes. Furthermore, a minor percentage of the patients may acquire different secondary chromosomal abnormalities including translocations between other chromosomes. We report here a patient with Ph+ CML presenting secondary chromosomal abnormalities including t(4;11)(q21;q23), t(3;3)(q29;q23) and t(11;18)(q10;q10) during the course of CML progression.

APA, Harvard, Vancouver, ISO, and other styles

16

Oliveira, Fabio Morato, Maria do Carmo Favarin, Rodrigo T. Calado, Ana Paula N. Rodrigues Alves, Cassia Godoi, and Roberto P. Falcao. "Spectral Karyotyping (SKY) Reveals a New Subset of MDS Patients with Clonal Chromosomal Abnormalities Not Detected by G-Banding Analysis." Blood 118, no. 21 (November 18, 2011): 1718. http://dx.doi.org/10.1182/blood.v118.21.1718.1718.

Full text

Abstract:

Abstract Abstract 1718 Cytogenetic findings in bone marrow cells of MDS patients are essential for a correct diagnosis and classification of the disease and constitute one of the most important independent prognostic factors. The classical cytogenetic analysis, however, often cannot be fully resolved by G-banding because of the presence of marker chromosomes, rings or unidentified material attached to chromosomes. Spectral karyotyping (SKY) has proven to be an important tool for the interpretation of complex karyotypes or identification of suitable abnormalities in hematological malignancies. By using SKY analysis in combination with G-banding were identified new clonal chromosomal abnormalities “masked” by the limited resolution of classical cytogenetic. As a consequence changes in IPSS score were observed. Bone marrow samples of 46 (forty-six) MDS patients were incubated in RPMI 1640 with 20% fetal calf serum for 72h at 37°C. Chromosome preparations were obtained by using standard procedures and the subsequent cytogenetic analysis and interpretation were made according to ISCN 2009. The patients studied were classified as refractory anemia (RA) and refractory anemia with ringed sideroblast (RARS), with less than 5% blast. Slides for SKY were prepared by using the same fixed chromosome preparations, stored at −20°C, as employed for G-banding analysis. Chromosome labeling was performed with the SKY fluorescent labeling kit (Applied Spectral Imaging, Migdal HaEmek, Israel) according to the manufacturer's protocol. A minimum of twenty metaphases were analyzed using the SkyView 5.5 software (ASI, Carlsbad, CA, USA). In a group of 46 subjects studied, the cytogenetic analysis (G-banding) showed chromosomal aberrations in 13 patients (54.2%) and normal karyotype was observed in 11 subjects (45.8%). The abnormalities observed were dup(1)(q21q32), inv(3)(q21q26), t(3;3)(q21;q26), +4, del(5)(q31), −7, del(7)(q22q36), +8, add(17)(p12), +i(17)(q10), del(20)(q11). The group with normal cytogenetic, SKY analysis revealed “masked” chromosomal abnormalities in 6 patients, being t(7;9)(q36;q34), ins(1;6)(q21;?), t(11;12)(p15;q24.1), ins(3;5)(p21;?), t(8;16)(q23;?) and ins(6;11)(q21;?). Among 13 cases studied with previous chromosomal abnormalities by G-banding analysis, SKY identified additional abnormalities in 8 patients. Some abnormalities found include t(6;9)(q27;q22), t(12;17)(p13;p12) and t(8;11)(p12;q12). For both groups with normal and altered karyotypes, the profile of masked chromosomal abnormalities seen were insertions and translocations involving small segments of chromosomes. In the majority of the cases the frequency of abnormal clones was less than 50%. However, in all patients the abnormalities identified by SKY were classified as clonal. All abnormalities identified were confirmed by FISH, by using a set of probes. SKY analysis has proved to be a promising and reliable method for identification of additional and complex chromosomal abnormalities usually present in a great number of human neoplasias. The contribution for the prognostic information of these new chromosomal abnormalities identified beyond the limited resolution of G-banding in MDS will require a detail analysis of the patients' evolution. Financial Support: FAPESP (Proc. 07/52462-7) Disclosures: No relevant conflicts of interest to declare.

APA, Harvard, Vancouver, ISO, and other styles

17

Gindina, Tatiana L., Mamaev N. Nikolay, Bondarenko N. Sergey, Slesarchuk A. Olga, Anastasiya S. Borovkova, Svetlana V. Razumova, Zubarovskaya S. Lyudmila, and Boris Afanasyev. "Prognostic Impact of Adverse Chromosomal Abnormalities on Outcome of Allogeneic Stem Cell Transplantation in Hyperdiploid Variant of Acute Myeloid Leukemia." Blood 128, no. 22 (December 2, 2016): 5234. http://dx.doi.org/10.1182/blood.v128.22.5234.5234.

Full text

Abstract:

Abstract Background. Chromosome gain is frequent in acute myeloid leukemia (AML) and is counted alongside structural abnormalities when determining karyotype complexity. Meantime, there are no studies investigating the cytogenetic profile and outcome of patients with a hyperdiploid variant (HV, ³47 chromosomes) of AML after allogeneic stem cell transplantation (allo-HSCT). Aim. To evaluate the prognostic impact of different cytogenetic characteristics, including the modal number, the number of chromosomal aberrations in complex karyotype (CK), the adverse chromosomal abnormalities (ACA) (monosomy 7/7q-, monosomy 5/5q-, monosomy 17/17p-,t(6;9)(p22;q34) on results of allogeneic stem cell transplantation (allo-HSCT) in patients with HV of AML. Material and methods.Forty-seven patients with HV of AML (21 women and 26 men, aged from 1 to 58 years, median - 23,9 years) were examined.Analysis of overall and event-free survival predictors after allo-HSCT in patients with different clinical, transplant and cytogenetic characteristics was performed. Results. The most common in the karyotype was the modal number of chromosome (MN) 47-48 which was observed in 31 (66 %) patients.Highhyperdiploidy with the modal number 49-65 wasidentified in13 (28 %) patients, near-triploidy and near-tetraploidy karyotypes were found in3 (6%) patients. Chromosomes were gained in a nonrandom pattern. Chromosome 8 (50 %), 21 (32 %), 13 (16 %)è 22 (16 %) were the most commonly gained. Structural chromosomal abnormalities were detected in 22 (47 %) patients, and the adverse chromosomal abnormalities were revealed in 7 (19 %) patients.In univariate analysis, overall survival (OS) and event-free survival (EFS) were various in patients with differentdisease status at transplantation (remission vs active disease; p=0.003 and p=0.002, respectively) and adverse chromosomal abnormalities inhyperdiploid karyotype (ACA- vs ACA+; p=0.001 and p=0.03, respectively). Additional analysis of selected patients group with structurally complex karyotype (n=19) showedthat the patients without ACA had OS higher than patients with ACA (p=0.03).In multivariate analysis, independent predictors of decreased OS and EFS were active disease at allo-HSCT (p=0.004èp=0.006, respectively) and the presence of the ACA (p=0.002 only for OS). Conclusion. High-risk factors in patients with HV of AML treated by allo-HSCT are adverse chromosomal aberrations. Therefore, the patients with formal criteria Çcomplex karyotypeÈ should not automatically be assigned to the adverse cytogenetic risk group on the basis of complexity. Instead they should be assessed for the presence of specific chromosomal abnormalities, which are known to harbor an adverse effect. Table 1 Patients and Transplant characteristics Table 1. Patients and Transplant characteristics Table 2 Multivariate analyses Table 2. Multivariate analyses Figure Overall survival depending on clinical status at HSCT and the presence of adverse chromosomal abnormalities (-7/7q-,5q-,17p-,t(6;9) in patients with a hyperdiploid variant of AML. Figure. Overall survival depending on clinical status at HSCT and the presence of adverse chromosomal abnormalities (-7/7q-,5q-,17p-,t(6;9) in patients with a hyperdiploid variant of AML. Disclosures No relevant conflicts of interest to declare.

APA, Harvard, Vancouver, ISO, and other styles

18

Whang-Peng, J., RC Young, EC Lee, DL Longo, GP Schechter, and VT Jr DeVita. "Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities." Blood 71, no. 2 (February 1, 1988): 403–14. http://dx.doi.org/10.1182/blood.v71.2.403.bloodjournal712403.

Full text

Abstract:

Cytogenetic studies of 68 patients who developed secondary leukemia (SL)/dysmyelopoietic syndrome (DMS) after extensive chemotherapy and/or radiation therapy as well as patients who developed SL/DMS without such treatment showed that those patients who received radiation alone or with chemotherapy had more extensive numerical and structural abnormalities than those who received only chemotherapy. In terms of the specific chromosomal abnormalities, there are no differences between the various treatment groups. Hypodiploidy is the most common form of aneuploidy in these patients, with the most common numerical abnormality being the loss of chromosome 7. The most common structural abnormalities involved chromosomes 3 and 5. When compared with patients with de novo leukemia and DMS, the chromosomal abnormalities in these patients are more complex and extensive. Serial studies revealed that cytogenetic abnormalities do not precede the development of hematologic changes by significant time periods.

APA, Harvard, Vancouver, ISO, and other styles

19

Alonso, ML, ME Richardson, CE Metroka, JA Mouradian, PR Koduru, DA Filippa, and RS Chaganti. "Chromosome abnormalities in AIDS-associated lymphadenopathy." Blood 69, no. 3 (March 1, 1987): 855–58. http://dx.doi.org/10.1182/blood.v69.3.855.855.

Full text

Abstract:

Abstract Cytogenetic studies were performed on direct and 24-hour culture preparations of eight lymph node biopsies from seven patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex (ARC)- associated lymphadenopathy in whom histological evidence of lymphoma was not detected. Three of these seven had chromosomal abnormalities, including chromosome instability in one and clonal chromosomal abnormalities in two; one of the latter was a t(8;14)(q24;q32). The remaining five showed normal karyotypes. Epstein-Barr virus (EBV) titers were elevated in all three patients that exhibited chromosome abnormalities, two of whom later developed malignant lymphoma. A control group of five patients with reactive lymphadenopathy not associated with AIDS failed to reveal chromosomal aberrations, but elevated EBV titers were present in two. These data are consistent with current views on the role of EBV and chromosome change in the development of lymphoma in immunodeficient states and suggest that karyotypically abnormal AIDS-related lymphadenopathy represents a prelymphomatous proliferation.

APA, Harvard, Vancouver, ISO, and other styles

20

Alonso, ML, ME Richardson, CE Metroka, JA Mouradian, PR Koduru, DA Filippa, and RS Chaganti. "Chromosome abnormalities in AIDS-associated lymphadenopathy." Blood 69, no. 3 (March 1, 1987): 855–58. http://dx.doi.org/10.1182/blood.v69.3.855.bloodjournal693855.

Full text

Abstract:

Cytogenetic studies were performed on direct and 24-hour culture preparations of eight lymph node biopsies from seven patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex (ARC)- associated lymphadenopathy in whom histological evidence of lymphoma was not detected. Three of these seven had chromosomal abnormalities, including chromosome instability in one and clonal chromosomal abnormalities in two; one of the latter was a t(8;14)(q24;q32). The remaining five showed normal karyotypes. Epstein-Barr virus (EBV) titers were elevated in all three patients that exhibited chromosome abnormalities, two of whom later developed malignant lymphoma. A control group of five patients with reactive lymphadenopathy not associated with AIDS failed to reveal chromosomal aberrations, but elevated EBV titers were present in two. These data are consistent with current views on the role of EBV and chromosome change in the development of lymphoma in immunodeficient states and suggest that karyotypically abnormal AIDS-related lymphadenopathy represents a prelymphomatous proliferation.

APA, Harvard, Vancouver, ISO, and other styles

21

Rubin, CM, DC Arthur, WG Woods, BJ Lange, PC Nowell, JD Rowley, J. Nachman, B. Bostrom, ES Baum, and CR Suarez. "Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy." Blood 78, no. 11 (December 1, 1991): 2982–88. http://dx.doi.org/10.1182/blood.v78.11.2982.2982.

Full text

Abstract:

Abstract We have studied 20 children with therapy-related myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) who were 3 months to 16 years old at diagnosis of their primary neoplasm and 1 to 24 years old at diagnosis of their secondary neoplasm. The median interval from initial treatment for the first malignancy to diagnosis of therapy- related MDS or AML was 46 months (range, 12 to 116 months). Twelve patients had chromosomal abnormalities resulting in loss of material from the long arm of chromosomes 5 and/or 7, three patients had abnormalities of chromosome 11 band q23, one patient had both classes of abnormalities, three patients had other abnormalities, and one patient had a normal karyotype. Ten of 12 patients with chromosome 5 and/or 7 abnormalities had been exposed to an alkylating agent, and two of three patients with 11q23 abnormalities had been exposed to an epipodophyllotoxin. The patient with both classes of abnormalities had been exposed to both types of therapy. We conclude that abnormalities of chromosomes 5 and/or 7 are common in children with therapy-related MDS or AML. The proposed relationships between exposure to alkylating agents and abnormalities of chromosomes 5 and/or 7 and between exposure to epipodophyllotoxins and abnormalities of 11q23 are supported in this pediatric series.

APA, Harvard, Vancouver, ISO, and other styles

22

Rubin, CM, DC Arthur, WG Woods, BJ Lange, PC Nowell, JD Rowley, J. Nachman, B. Bostrom, ES Baum, and CR Suarez. "Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy." Blood 78, no. 11 (December 1, 1991): 2982–88. http://dx.doi.org/10.1182/blood.v78.11.2982.bloodjournal78112982.

Full text

Abstract:

We have studied 20 children with therapy-related myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) who were 3 months to 16 years old at diagnosis of their primary neoplasm and 1 to 24 years old at diagnosis of their secondary neoplasm. The median interval from initial treatment for the first malignancy to diagnosis of therapy- related MDS or AML was 46 months (range, 12 to 116 months). Twelve patients had chromosomal abnormalities resulting in loss of material from the long arm of chromosomes 5 and/or 7, three patients had abnormalities of chromosome 11 band q23, one patient had both classes of abnormalities, three patients had other abnormalities, and one patient had a normal karyotype. Ten of 12 patients with chromosome 5 and/or 7 abnormalities had been exposed to an alkylating agent, and two of three patients with 11q23 abnormalities had been exposed to an epipodophyllotoxin. The patient with both classes of abnormalities had been exposed to both types of therapy. We conclude that abnormalities of chromosomes 5 and/or 7 are common in children with therapy-related MDS or AML. The proposed relationships between exposure to alkylating agents and abnormalities of chromosomes 5 and/or 7 and between exposure to epipodophyllotoxins and abnormalities of 11q23 are supported in this pediatric series.

APA, Harvard, Vancouver, ISO, and other styles

23

Pandey, Archana, and Shyam R. Sakya. "Effect of triazophos on mitotic activity and chromosomal behavior in root meristems of Allium cepa L." Botanica Orientalis: Journal of Plant Science 6 (March 15, 2010): 4–7. http://dx.doi.org/10.3126/botor.v6i0.2903.

Full text

Abstract:

Effect of triazophos (an organophosphorous insecticide) on mitotic activity and chromosomal behavior in the meristematic region of root tip cells of Allium cepa L. was assessed. The insecticide showed mitotic depression and positive chromo-toxic effects. Abnormalities, such as stickiness, plasmolysed cells, equatorial plate shifting, polar shifting, irregular chromosome arrangement, precocious arms formation, bridge formation, C-metaphase, fragmentation of chromosomes, unequal cytokinesis, diagonal cytokinesis, delayed cytokinesis and formation of binucleated cells, were recorded in the chemically pretreated root meristem. Key-words: chromosomal and cellular abnormalities; cytotoxic effect; mitotic index; phase indices.DOI: 10.3126/botor.v6i0.2903 Botanica Orientalis - Journal of Plant Science (2009) 6: 4-7

APA, Harvard, Vancouver, ISO, and other styles

24

Palanisamy, Nallasivam, Yasuo Imanishi, Pulivarthi H. Rao, Hideki Tahara, R. S. K. Chaganti, and Andrew Arnold. "Novel Chromosomal Abnormalities Identified by Comparative Genomic Hybridization in Parathyroid Adenomas1." Journal of Clinical Endocrinology & Metabolism 83, no. 5 (May 1, 1998): 1766–70. http://dx.doi.org/10.1210/jcem.83.5.4806.

Full text

Abstract:

The molecular basis of parathyroid adenomatosis includes defects in the cyclin D1/PRAD1 and MEN1 genes but is, in large part, unknown. To identify new locations of parathyroid oncogenes or tumor suppressor genes, and to further establish the importance of DNA losses described by molecular allelotyping, we performed comparative genomic hybridization (CGH) on a panel of 53 typical sporadic (nonfamilial) parathyroid adenomas. CGH is a new molecular cytogenetic technique in which the entire tumor genome is screened for chromosomal gains and/or losses. Two abnormalities, not previously described, were found recurrently: gain of chromosome 16p (6 of 53 tumors, or 11%) and gain of chromosome 19p (5 of 53, or 9%). Losses were found frequently on 11p (14 of 53, or 26%), as well as 11q (18 of 53, or 34%). Recurrent losses were also seen on chromosomes 1p, 1q, 6q, 9p, 9q, 13q, and 15q, with frequencies ranging from 8–19%. Twenty-four of the 53 adenomas were also extensively analyzed with polymorphic microsatellite markers for allelic losses, either in this study (11 cases) or previously (13 cases). Molecular allelotyping results were highly concordant with CGH results in these tumors (concordance level of 97.5% for all informative markers/chromosome arms examined). In conclusion, CGH has identified the first two known chromosomal gain defects in parathyroid adenomas, suggesting the existence of direct-acting parathyroid oncogenes on chromosomes 16 and 19. CGH has confirmed the locations of putative parathyroid tumor suppressor genes, also defined by molecular allelotyping, on chromosomes 1p, 6q, 9p, 11q, 13q, and 15q. Finally, CGH has provided new evidence favoring the possibility that distinct parathyroid tumor suppressors exist on 1p and 1q, and has raised the possibility of a parathyroid tumor suppressor gene on 11p, distinct from the MEN1 gene on 11q. CGH can identify recurrent genetic abnormalities in hyperparathyroidism, especially chromosomal gains, that other methods do not detect.

APA, Harvard, Vancouver, ISO, and other styles

25

Whang-Peng, J., RC Young, EC Lee, DL Longo, GP Schechter, and VT Jr DeVita. "Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities." Blood 71, no. 2 (February 1, 1988): 403–14. http://dx.doi.org/10.1182/blood.v71.2.403.403.

Full text

Abstract:

Abstract Cytogenetic studies of 68 patients who developed secondary leukemia (SL)/dysmyelopoietic syndrome (DMS) after extensive chemotherapy and/or radiation therapy as well as patients who developed SL/DMS without such treatment showed that those patients who received radiation alone or with chemotherapy had more extensive numerical and structural abnormalities than those who received only chemotherapy. In terms of the specific chromosomal abnormalities, there are no differences between the various treatment groups. Hypodiploidy is the most common form of aneuploidy in these patients, with the most common numerical abnormality being the loss of chromosome 7. The most common structural abnormalities involved chromosomes 3 and 5. When compared with patients with de novo leukemia and DMS, the chromosomal abnormalities in these patients are more complex and extensive. Serial studies revealed that cytogenetic abnormalities do not precede the development of hematologic changes by significant time periods.

APA, Harvard, Vancouver, ISO, and other styles

26

Ferlin, A., A. Garolla, and C. Foresta. "Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities." Cytogenetic and Genome Research 111, no. 3-4 (2005): 310–16. http://dx.doi.org/10.1159/000086905.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

Kouvidi, Elisavet, Sophia Zachaki, Haralampia Tsarouha, Amelia Pantou, Kalliopi N. Manola, Emmanuel Kanavakis, and Ariadni Mavrou. "Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF." Cytogenetic and Genome Research 161, no. 12 (2021): 551–55. http://dx.doi.org/10.1159/000521655.

Full text

Abstract:

Chromosomal abnormalities are often detected in women with reproductive problems. This study aimed to investigate the presence and type of chromosomal aberrations in peripheral blood of women undergoing in vitro fertilization (IVF) and their possible association with advanced maternal age (AMA). A total of 1,837 women undergoing IVF between 2016 and 2019 were enrolled in the study. Women were further divided in AMA (≥35 years) and younger women (<35 years). Chromosomal abnormalities were detected by peripheral blood karyotyping using standard cytogenetic techniques. Chromosomal abnormalities were detected in 13.5% of the enrolled women; 1.1% had autosomal abnormalities including reciprocal translocations, inversions, Robertsonian translocations, and a supernumerary marker chromosome, while 12.4% had X chromosome abnormalities. The frequency of chromosomal abnormalities was significantly higher in AMA women than in younger ones (17.4% vs. 3.9%, <i>p</i> < 0.05). Women of AMA exhibited X chromosome mosaicism with a frequency of 16.1%, and mosaic karyotypes with 2 and 3 aneuploid cell lines were more frequently detected. X chromosome mosaicism is the most common karyotypic aberration in women undergoing IVF and has 6-fold increased incidence in AMA women compared to younger ones. The present study verifies previous observations that low-level peripheral blood X chromosome mosaicism and the number of aneuploid cell lines observed in women of AMA could be an indication of aneuploidy and poor quality of oocytes contributing to infertility.

APA, Harvard, Vancouver, ISO, and other styles

28

Vahidi, Parisa, Seyed Ali Rahmani, and Nahid Hadige Rezvan. "Study of pregnant women with high risk of fetus abnormalities by routine cytogenetics method (karyotyping) and molecular method (FISH) by using X and Y probs and comparing the advantages and disadvantages of these methods in the northwest of Iran's patients." Medical Journal of Tabriz University of Medical Sciences and Health Services 43, no. 1 (April 17, 2021): 108–15. http://dx.doi.org/10.34172/mj.2021.035.

Full text

Abstract:

Background: The health of the fetus during the 9 months of pregnancy is very important for every pregnant couple. Identifying carriers of the genetic diseases and their diagnosis before birth, controls the disease's prevalence and does not impose huge costs on the patient's family and community. This study aimed to evaluate the rapid prenatal diagnosis importance in the chromosomal abnormalities identification. Methods: 50 amniotic fluid samples were studied by karyotyping and fluorescence in situ hybridization (FISH). Karyotyping was performed on me taphase chromosomes to identify all the chromosomal abnormalities and FISH detected chromosomal abnormalities by using X and Y probs, as the rapid method. Results: We identified one cases of Down syndrome (2%), three cases of extension in the polymorphism region of P arms of chromosome 15(15p+) (6%), one cases of extension in the polymorphism region of chromosome 9 (9 qh+) (2%), one case of peristaltic inversion in chromosome Y (2%), one case of XYY mosaic embryo, 46, XY /47, XYY variant (2%) and one case with the extra unknown segment on P arms of chromosome 15 (2%). Conclusion: FISH is a useful method with high sensitivity to provide rapid results for couples who don't have enough time to end their pregnancy legally. In cases of X-linked diseases, it is a reliable method to learn the sex of the fetus. FISH is not able to detect structural anomalies, therefore karyotyping is required for absolute right outcomes of chromosome abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

29

Pui, CH, SC Raimondi, RK Dodge, GK Rivera, LA Fuchs, M. Abromowitch, AT Look, WL Furman, WM Crist, and DL Williams. "Prognostic importance of structural chromosomal abnormalities in children with hyperdiploid (greater than 50 chromosomes) acute lymphoblastic leukemia." Blood 73, no. 7 (May 15, 1989): 1963–67. http://dx.doi.org/10.1182/blood.v73.7.1963.1963.

Full text

Abstract:

Abstract Approximately one fourth of children with newly diagnosed acute lymphoblastic leukemia (ALL) have hyperdiploid (greater than 50 chromosomes) blasts and a relatively favorable prognosis. Nonetheless, a substantial proportion of these patients fail therapy. We studied 138 children (70 male, 68 female) with hyperdiploid greater than 50 ALL to assess initial clinical and cytogenetic features that might predict treatment failure. In 85 of these cases (62%), structural chromosomal abnormalities were also present; clinical and laboratory features in this group did not differ from those of the 53 cases with only numeric abnormalities. However, of the 28 failures seen at a median follow-up of 4 years, 22 occurred in cases with structural chromosomal abnormalities (P = .03 by Breslow test). In a multivariate analysis, only the presence of structural chromosomal abnormalities and male gender were independently associated with treatment failure. Structural chromosomal abnormalities in cases of ALL with greater than 50 chromosomes may define a biologically different form of leukemia characterized by increased likelihood of drug resistance.

APA, Harvard, Vancouver, ISO, and other styles

30

Pui, CH, SC Raimondi, RK Dodge, GK Rivera, LA Fuchs, M. Abromowitch, AT Look, WL Furman, WM Crist, and DL Williams. "Prognostic importance of structural chromosomal abnormalities in children with hyperdiploid (greater than 50 chromosomes) acute lymphoblastic leukemia." Blood 73, no. 7 (May 15, 1989): 1963–67. http://dx.doi.org/10.1182/blood.v73.7.1963.bloodjournal7371963.

Full text

Abstract:

Approximately one fourth of children with newly diagnosed acute lymphoblastic leukemia (ALL) have hyperdiploid (greater than 50 chromosomes) blasts and a relatively favorable prognosis. Nonetheless, a substantial proportion of these patients fail therapy. We studied 138 children (70 male, 68 female) with hyperdiploid greater than 50 ALL to assess initial clinical and cytogenetic features that might predict treatment failure. In 85 of these cases (62%), structural chromosomal abnormalities were also present; clinical and laboratory features in this group did not differ from those of the 53 cases with only numeric abnormalities. However, of the 28 failures seen at a median follow-up of 4 years, 22 occurred in cases with structural chromosomal abnormalities (P = .03 by Breslow test). In a multivariate analysis, only the presence of structural chromosomal abnormalities and male gender were independently associated with treatment failure. Structural chromosomal abnormalities in cases of ALL with greater than 50 chromosomes may define a biologically different form of leukemia characterized by increased likelihood of drug resistance.

APA, Harvard, Vancouver, ISO, and other styles

31

Havelange, Violaine, Geneviève Ameye, Evelyne Callet-Bauchu, Nicole Dastugue, Carole Barin, Dominique Penther, Lucienne Michaux, Anne Hagemeijer, Miikka Vikkula, and Hélène Antoine-Poirel. "Multicolor Fluorescence In Situ Hybridization (M-FISH) in Highly Aggressive B-Cell Lymphomas with 8q24/MYC Involvement Revealed the Heterogeneity of 13q Abnormalities with Unexpected Partial Gains." Blood 108, no. 11 (November 1, 2006): 2068. http://dx.doi.org/10.1182/blood.v108.11.2068.2068.

Full text

Abstract:

Abstract Chromosomal translocations involving the MYC oncogene (8q24) are known to occur in Burkitt lymphomas/leukemias (BL) but also in 5–30% of diffuse large B-cell lymphomas which are usually highly aggressive (8q24 DLBCL). Two recent conventional cytogenetics (CC) studies showed that secondary chromosomal abnormalities have a negative prognostic impact, especially13q abnormalities (frequently described as a deletion and usually associated with a complex karyotype, i.e. > 3 chromosomal alterations), mainly in childhood mature B-cell lymphomas, and in a less extent 7q, 3q, 22q and chromosome 17. M-FISH was applied to 120 (74% adults and 26% children) high grade B-cell non-Hodgkin lymphomas (86% BL, 14% 8q24 DLBCL) carrying MYC rearrangement and complex karyotype and/or 13q abnormality in order to find recurrent and/or cryptic chromosomal alterations. Abnormal metaphases were available in 96 (80%) cases. We described ‘new’ (not seen in CC) chromosomal rearrangements in 50 (52%) cases, refined those seen by CC in 28 (29%) cases and confirmed CC abnormalities in 18 (19%) cases. M-FISH allowed to characterize 55 structural 13q abnormalities in 42 patients (21 ‘new’ alterations): 24 der(13q) leading to partial del(13q) and partial gain of different partner chromosomes [mainly 1q or 7q], 15 del(13q) [of 2 minimal regions : q14 & q31q34], 13 gains (only 2 seen by CC) and 3 balanced translocations. Combined results of CC and M-FISH showed that the most frequent abnormalities among patients with complex karyotype involved 1q, 7q, Xq, 3q, 18q, 6q, 17p and chromosome 22 (excluding 8q24 translocations). 79 1q abnormalities were detected in 54 patients (26 % ‘new’): mostly gains (minimal amplified region: q22q31) due to unbalanced translocations with chromosomes 13, 22, 7 (59%) or duplications (25%). 55 partial 7q gains were observed in 42 patients (22% ‘new’), mostly +7 or unbalanced translocations with 13q, 6q or 1q. The other most common abnormalities were: t(14;18) in 8q24 DLBCL, del(6q), der(3q) with various partners leading to partial loss of 3q, monosomy 17 or del(17p) and numerical changes of chromosomes 22 (monosomy) and X. In conclusion, this study confirms the contribution of M-FISH in refining CC results in highly aggressive 8q24 B-cell lymphomas: ‘new’ rearrangements were identified especially in 1q (leading to partial 1q gains), 18q, 6q (leading to partial 6q deletions), 13q ; partial 13q gains were underestimated by CC and both 13q deletions and gains were more heterogeneous than expected. We are characterizing these prognostic additional chromosomal abnormalities with SNP-CHIPS 50K array (Affymetrix) to look for candidate genes and/or cellular pathways involved in Burkitt lymphomagenesis in cooperation with oncogenic effect of MYC. °on behalf of the GFCH (Groupe Francophone de Cytogénétique Hématologique) and the BCG-Ho (Belgian Cytogenetic Group of Hematology and Oncology).

APA, Harvard, Vancouver, ISO, and other styles

32

Pedersen-Bjergaard, J., M. Pedersen, D. Roulston, and P. Philip. "Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia." Blood 86, no. 9 (November 1, 1995): 3542–52. http://dx.doi.org/10.1182/blood.v86.9.3542.bloodjournal8693542.

Full text

Abstract:

Development of myelodysplasia (MDS) with subsequent progression to acute myeloid leukemia (AML) is an example of the multistep process of malignant transformation in which each step often relates to genetic abnormalities that can be directly seen as chromosomal aberrations. Therapy-related MDS and AML (t-MDS and t-AML) may serve as an ideal model for a study of the genetic evolution of MDS and AML because chromosomal abnormalities are observed in most cases and because the disease is often diagnosed early due to a close patient follow-up. The cytogenetic characteristics at diagnosis were studied in 137 consecutive cases of t-MDS and t-AML, including 22 new cases, and correlated with the clinical characteristics and the course of the disease. Balanced translocations to chromosome bands 11q23 and 21q22 represent primary steps in pathways leading directly to overt t-AML. Specific chromosomal deletions or losses, on the other hand, represent primary or secondary events in alternative pathways leading to t-MDS with potential for subsequent transformation to overt t-AML. Loss of a whole chromosome 7 (-7) or deletion of its long arm (7q-) and deletion of the long arm of a chromosome 5 (5q-) were the most frequent primary abnormalities significantly related to t-MDS. Loss of a whole chromosome 5 (-5) was also a primary event, but surprisingly, was observed equally in t-MDS and in t-AML. Deletion of chromosome 13, including bands q13q14, was another less common primary aberration of t- MDS. Except for -7 and del(13q), these primary aberrations were most often observed together with secondary abnormalities. These included balanced aberrations involving band 3q26 and various deletions of chromosome 3, a gain of a whole chromosome 8, deletions of the short arm or loss of chromosomes 12 and 17, loss of a whole chromosome 18, and deletions of the short arm of chromosome 21. Deletions or loss or chromosomes 5 and 7 were significantly associated with previous therapy with alkylating agents (P = .002), and balanced translocations to chromosome bands 3q26, 11q23, and 21q22 were significantly associated with previous therapy with drugs targeting DNA-topoisomerase II (P < .00005). Other characteristic aberrations were not related to any specific type of therapy. The molecular changes believed to contribute to the development of t-MDS and t-AML have been identified for many of these chromosomal abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

33

Sehnert, Amy J., Brian Rhees, David Comstock, Eileen de Feo, Gabrielle Heilek, John Burke, and Richard P. Rava. "Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood." Clinical Chemistry 57, no. 7 (July 1, 2011): 1042–49. http://dx.doi.org/10.1373/clinchem.2011.165910.

Full text

Abstract:

BACKGROUND Massively parallel DNA sequencing of cell-free fetal DNA from maternal blood can detect fetal chromosomal abnormalities. Although existing algorithms focus on the detection of fetal trisomy 21 (T21), these same algorithms have difficulty detecting trisomy 18 (T18). METHODS Blood samples were collected from 1014 patients at 13 US clinic locations before they underwent an invasive prenatal procedure. All samples were processed to plasma, and the DNA extracted from 119 samples underwent massively parallel DNA sequencing. Fifty-three sequenced samples came from women with an abnormal fetal karyotype. To minimize the intra- and interrun sequencing variation, we developed an optimized algorithm by using normalized chromosome values (NCVs) from the sequencing data on a training set of 71 samples with 26 abnormal karyotypes. The classification process was then evaluated on an independent test set of 48 samples with 27 abnormal karyotypes. RESULTS Mapped sites for chromosomes of interest in the sequencing data from the training set were normalized individually by calculating the ratio of the number of sites on the specified chromosome to the number of sites observed on an optimized normalizing chromosome (or chromosome set). Threshold values for trisomy or sex chromosome classification were then established for all chromosomes of interest, and a classification schema was defined. Sequencing of the independent test set led to 100% correct classification of T21 (13 of 13) and T18 (8 of 8) samples. Other chromosomal abnormalities were also identified. CONCLUSION Massively parallel sequencing is capable of detecting multiple fetal chromosomal abnormalities from maternal plasma when an optimized algorithm is used.

APA, Harvard, Vancouver, ISO, and other styles

34

Sha, Jing, Guiping Huang, Bei Zhang, Xia Wang, Zaochun Xu, and Jingfang Zhai. "Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China." Journal of International Medical Research 48, no. 4 (December 29, 2019): 030006051989671. http://dx.doi.org/10.1177/0300060519896712.

Full text

Abstract:

Objective The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFa+b + c, AZFb+c, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

APA, Harvard, Vancouver, ISO, and other styles

35

Xiao, Yajuan, Yuanlu Huang, Na Xu, Rong Lin, Xuan Zhou, Xiaozhen Xiao, Guanlun Gao, and Liu Xiaoli, MD. "Chromosomal Instability: A Probable Unfavorable Prognostic Factor For Patients Of Myeloidysplastic Syndromes." Blood 122, no. 21 (November 15, 2013): 5243. http://dx.doi.org/10.1182/blood.v122.21.5243.5243.

Full text

Abstract:

Abstract Objective Myelodysplastic syndromes (MDS) are a group of heterogeneous hematopoetic stem cell clonal disorders with a high frequency of karyotypic abnormalities (40-60%). Among karyotypic abnormalities, abnormal chromosome numbers (aneuploidy) occurs frequently. In aneuploidy, chromosomal instability (CIN) is defined as persistent mis-segregation of whole chromosomes and is caused by defects during mitosis with an odd number of chromosomes. CIN is associated with tumor heterogenesis, multidrug resistance and aggressiveness in solid tumor. Hence, we performed a one-center study on MDS patients to uncover the role of CIN in MDS clinical development. Method A total of 104 cases , 62 male and 42 female, aged from 15 years to 89 years, were tested by fluorescent in situ hybridization (FISH) and karyotypic analysis before any therapeutic intervention. According to the cytogenetic analysis of those two technology they were separated into 5 groups including: CIN, normal karyotype, complex karyotype excluding CIN, deletion chromosome 7 abnormality and other chromosomal abnormalities. All cases were followed up for a median of 19.5 months. Results Karyotyping and FISH identified 70 (67.3%) patients with abnormal karyotypes containing 32 cases of CIN, 9 cases of deletion chromosome 7 abnormality and 5 cases of complex karyotype excluding CIN. The median survival for CIN group was 13 months (incredible interval:6-20 months) compared with 23 months (incredible interval :20-27 months) in all cases, 44months in normal karyotype, 23 months in deletion chromosome 7 abnormality and 13 months in complex karyotype excluding CIN group (P=0.001 for log rank method). In CIN group, 11 cases transformed into acute leukemia with a incidence of 34% with no significant difference with total cases. And the length of time for leukemia transformation shows no significant difference between CIN group and total cases. Conclusion Chromosomal instability in MDS patients of the study revealed worst prognosis compared with other groups. This may suggest that chromosomal instability in MDS chromosomal abnormality confer a significant independent adverse impact on patients survival. However this effect might have no relation to leukemia transformation. Disclosures: No relevant conflicts of interest to declare.

APA, Harvard, Vancouver, ISO, and other styles

36

Haase, Detlef, Ulrich Germing, Julie Schanz, Michael Pfeilstöcker, Thomas Nösslinger, Barbara Hildebrandt, Andrea Kundgen, et al. "New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients." Blood 110, no. 13 (December 15, 2007): 4385–95. http://dx.doi.org/10.1182/blood-2007-03-082404.

Full text

Abstract:

We have generated a large, unique database that includes morphologic, clinical, cytogenetic, and follow-up data from 2124 patients with myelodysplastic syndromes (MDSs) at 4 institutions in Austria and 4 in Germany. Cytogenetic analyses were successfully performed in 2072 (97.6%) patients, revealing clonal abnormalities in 1084 (52.3%) patients. Numeric and structural chromosomal abnormalities were documented for each patient and subdivided further according to the number of additional abnormalities. Thus, 684 different cytogenetic categories were identified. The impact of the karyotype on the natural course of the disease was studied in 1286 patients treated with supportive care only. Median survival was 53.4 months for patients with normal karyotypes (n = 612) and 8.7 months for those with complex anomalies (n = 166). A total of 13 rare abnormalities were identified with good (+1/+1q, t(1q), t(7q), del(9q), del(12p), chromosome 15 anomalies, t(17q), monosomy 21, trisomy 21, and −X), intermediate (del(11q), chromosome 19 anomalies), or poor (t(5q)) prognostic impact, respectively. The prognostic relevance of additional abnormalities varied considerably depending on the chromosomes affected. For all World Health Organization (WHO) and French-American-British (FAB) classification system subtypes, the karyotype provided additional prognostic information. Our analyses offer new insights into the prognostic significance of rare chromosomal abnormalities and specific karyotypic combinations in MDS.

APA, Harvard, Vancouver, ISO, and other styles

37

Millichap, J. Gordon. "Chromosomal Abnormalities in ADHD." Pediatric Neurology Briefs 16, no. 7 (July 1, 2002): 55. http://dx.doi.org/10.15844/pedneurbriefs-16-7-9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Fröhling, Stefan, and Hartmut Döhner. "Chromosomal Abnormalities in Cancer." New England Journal of Medicine 359, no. 7 (August 14, 2008): 722–34. http://dx.doi.org/10.1056/nejmra0803109.

Full text

APA, Harvard, Vancouver, ISO, and other styles

39

Sorge, Giovanni, and Anna Sorge. "Epilepsy and chromosomal abnormalities." Italian Journal of Pediatrics 36, no. 1 (2010): 36. http://dx.doi.org/10.1186/1824-7288-36-36.

Full text

APA, Harvard, Vancouver, ISO, and other styles

40

Muir, Walter J., Benjamin S. Pickard, and Douglas H. R. Blackwood. "Chromosomal abnormalities and psychosis." British Journal of Psychiatry 188, no. 6 (June 2006): 501–3. http://dx.doi.org/10.1192/bjp.bp.106.023895.

Full text

Abstract:

SummaryThe search for susceptibility genes for schizophrenia and severe affective disorder has been enhanced by the study of cytogenetic abnormalities that disrupt genes directly. One such gene is DISCI and there is increasing evidence that it may be an important modulator of risk of psychosis.

APA, Harvard, Vancouver, ISO, and other styles

41

POPESCU, P., and C. LEGAULT. "Chromosomal abnormalities and « hypoprolificacy »." CrossRef Listing Of Deleted DOIs 37, no. 3 (1988): 203–4. http://dx.doi.org/10.1051/rnd:19880342.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Ohno, Hitoshi, Miho Nakagawa, Chiyuki Kishimori, Katsuhiro Fukutsuka, and Atsuko Okumura. "Chromosomal abnormalities in leukemias." Tenri Medical Bulletin 15, no. 1 (2012): 105–13. http://dx.doi.org/10.12936/tenrikiyo.15.105.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

MAGLI, M. "Chromosomal abnormalities in embryos." Molecular and Cellular Endocrinology 183 (October 2001): S29—S34. http://dx.doi.org/10.1016/s0303-7207(01)00574-3.

Full text

APA, Harvard, Vancouver, ISO, and other styles

44

PLACHOT, M. "Chromosomal abnormalities in oocytes." Molecular and Cellular Endocrinology 183 (October 2001): S59—S63. http://dx.doi.org/10.1016/s0303-7207(01)00577-9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

VIDAL, F. "Chromosomal abnormalities in sperm." Molecular and Cellular Endocrinology 183 (October 2001): S51—S54. http://dx.doi.org/10.1016/s0303-7207(01)00579-2.

Full text

APA, Harvard, Vancouver, ISO, and other styles

46

POPESCU, P., and C. LEGAULT. "Chromosomal abnormalities and « hypoprolificacy »." Annales de Zootechnie 37, no. 3 (1988): 203–4. http://dx.doi.org/10.1051/animres:19880342.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Orecchia, G., L. Perfetti, and S. Scappaticci. "Porokeratosis and Chromosomal Abnormalities." Dermatology 182, no. 1 (1991): 65–66. http://dx.doi.org/10.1159/000247742.

Full text

APA, Harvard, Vancouver, ISO, and other styles

48

Blackwood, D., W. Muir, D. McIntyre, and B. Pickard. "Chromosomal abnormalities and depression." European Psychiatry 17 (May 2002): 29–30. http://dx.doi.org/10.1016/s0924-9338(02)80131-6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

49

El-Baz, Farida, Mohamed Saad Zaghloul, Ezzat El Sobky, Reham M. Elhossiny, Heba Salah, and Neveen Ezy Abdelaziz. "Chromosomal abnormalities and autism." Egyptian Journal of Medical Human Genetics 17, no. 1 (January 2016): 57–62. http://dx.doi.org/10.1016/j.ejmhg.2015.05.002.

Full text

APA, Harvard, Vancouver, ISO, and other styles

50

Weibolt, V. M., E. Van der Berg, T. Dijkhuizen, and W. M. Molenaar. "Chromosomal abnormalities in haemangiopericytomas." Cancer Genetics and Cytogenetics 91, no. 2 (October 1996): 153. http://dx.doi.org/10.1016/s0165-4608(97)82608-8.

Full text

APA, Harvard, Vancouver, ISO, and other styles

Journal articles on the topic 'Chromosomal abnormalities'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles