Gotowe bibliografie tematyczne / Chromosomal abnormalities

Gotowa bibliografia na temat „Chromosomal abnormalities”

Autor: Grafiati
Data publikacji: 4 czerwca 2021
Data aktualizacji: 9 marca 2023

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Artykuły w czasopismach na temat "Chromosomal abnormalities"

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Vorsanova, Svetlana G., Alexei D. Kolotii, Ivan Y. Iourov, Viktor V. Monakhov, Elena A. Kirillova, Ilia V. Soloviev i Yuri B. Yurov. "Evidence for High Frequency of Chromosomal Mosaicism in Spontaneous Abortions Revealed by Interphase FISH Analysis". Journal of Histochemistry & Cytochemistry 53, nr 3 (marzec 2005): 375–80. http://dx.doi.org/10.1369/jhc.4a6424.2005.

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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.
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R, Lakshmi Prabha Subhash, Anupama D, Jayarama S. Kadandale, Meenakshi Bhat, Harshal K L i Khizer Hussain Afroze M. "CONSANGUINITY AND CHROMOSOMAL ABNORMALITIES". International Journal of Anatomy and Research 5, nr 4.1 (1.10.2017): 4531–37. http://dx.doi.org/10.16965/ijar.2017.393.

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Dzitsiuk, V. V., i H. T. Tipilo. "CHROMOSOMAL ABNORMALITIES SHEEP". Animal Breeding and Genetics 53 (27.04.2017): 209–14. http://dx.doi.org/10.31073/abg.53.28.

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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.
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Salaskar, Vidya, Gauri Pradhan, Anurita Pais, Chaitali Kadam i Sunmeet Matkar. "Evaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India". International Journal of Research in Medical Sciences 5, nr 12 (25.11.2017): 5293. http://dx.doi.org/10.18203/2320-6012.ijrms20175443.

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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.
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Pazarbaşi, A., M. Kasap, O. Demirhan, M. Vardar, D. Suleymanova-Karahan i F. Doran. "Chromosomal Abnormalities in Endometrial and Ovarian Carcinomas". Balkan Journal of Medical Genetics 10, nr 2 (1.01.2007): 61–70. http://dx.doi.org/10.2478/v10034-008-0008-y.

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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.
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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 i 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, nr 24 (20.12.2019): 4427–31. http://dx.doi.org/10.3889/oamjms.2019.875.

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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.
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U., Shivani, Reshma A. Shetty, Suchetha Kumari N. i D. Prashanth Shetty. "Overview of chromosomal translocations associated with chronic myeloid leukemia". Biomedicine 42, nr 6 (31.12.2022): 1150–55. http://dx.doi.org/10.51248/.v42i6.1858.

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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.
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Nunes, Kledson Moraes, Talísia Nascimento Vianez, Denise Corrêa Benzaquem, Natalia Dayane Moura Carvalho i Cleiton Fantin. "Concomitance of numerical chromosomal alterations with structural in an elderly with Alzheimer’s disease: a case report". Scientia Medica 29, nr 4 (6.12.2019): 34464. http://dx.doi.org/10.15448/1980-6108.2019.4.34464.

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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.
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Pylyp, L. Y., L. A. Spinenko, V. D. Zukin i N. M. Bilko. "Хромосомні аномалії у чоловіків із різним ступенем порушення сперматогенезу". Visnyk of Dnipropetrovsk University. Biology, medicine 4, nr 1 (21.02.2013): 14–22. http://dx.doi.org/10.15421/021303.

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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.
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Eaker, Shannon, April Pyle, John Cobb i Mary Ann Handel. "Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice". Journal of Cell Science 114, nr 16 (15.08.2001): 2953–65. http://dx.doi.org/10.1242/jcs.114.16.2953.

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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.
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Rozprawy doktorskie na temat "Chromosomal abnormalities"

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Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm". Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.

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Bibliography: leaves 135-151. A study of chromosomal abnormalities and the localisation of chromosomes in human sperm, especially from men with TSD, using fluorescence in situ hybridization (FISH). The project entailed: 1. development of reliable FISH protocols, 2. determination of basline frequencies of aneuploidy, 3. analysis of chromosomal abnormalities in men with severe TSD and 4. assessment of the localisation of individual chromosomes within the sperm head.
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Lahn, Bruce T. 1968. "The human Y chromosome : gene content and chromosomal abnormalities". Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49655.

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Schouten, Hendricus Constantinus. "Chromosomal abnormalities in hematological malignancies". Maastricht : Maastricht : Datawyse ; University Library, Maastricht University [Host], 1991. http://arno.unimaas.nl/show.cgi?fid=5640.

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Martini, Elena. "Chromosomal abnormalities in human gametes". Maastricht : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1998. http://arno.unimaas.nl/show.cgi?fid=8529.

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Kirkpatrick, Gordon. "Chromosome segregation and meiotic defects in carriers of chromosomal abnormalities". Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/9705.

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Male carriers of chromosomal abnormalities (CA) are more frequent in the infertile population. These men have higher levels of sperm aneuploidy due to the aberrant segregation of the chromosomes involved in the abnormality. The presence of a CA may also influence the segregation of other chromosomes, in a process known as in interchromosomal effect (ICE). The behaviour of the CA during meiosis may account for the infertility observed in this population. We studied chromosome segregation, ICE and meiotic defects in a variety of CA. In carriers of CA, we determined the segregation patterns of chromosomes involved in the abnormality. With the exception of the carriers of mosaic aneuploidy, we found significantly increased frequencies of unbalanced chromosome complements. We observed ICE in six of twelve carriers, which were confined largely to the acrocentric chromosomes 13 and 21. We compared the frequency of chromosome imbalance in CA carriers with infertile, but karyotypically normal, and found higher levels of sperm aneuploidy than CA carriers or controls. We observed synapsis and recombination of homologous chromosomes in carriers of chromosomal abnormalities, as well infertile and fertile men. We observed reduced recombination in two of the carriers of CA and in three of the infertile men. Increased synaptic errors were observed in all carriers of CA and in four of the infertile men. We noted an increased proportion of cells lacking sex chromosome recombination in all of the CA carriers. We studied chromosome-specific recombination patterns on chromosomes 13, 18 and 21 and compared those results with levels of aneuploidy in the sperm but observed no relationship. We studied the recombination and sex chromosome association, of the involved chromosomes, in the three carriers of CA, and observed decreased recombination on the involved chromosomes and frequent association between the chromosome abnormality and the sex chromosomes. We report the use of a novel technique for the examination of meiotic cells derived from the ejaculate. We compared spermatocytes, derived from the ejaculate, with testicular derived spermatocytes and found no difference in the frequency of global or chromosome-specific recombination, synaptic errors or proportion of cells at various stages of prophase.
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Iatropoulou, Aikaterini. "Genesis of chromosomal abnormalities during oocyte growth and maturation". Thesis, Imperial College London, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.408762.

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Al, farawati Samer. "Analysis of chromosomal abnormalities in human oocytes and embryos". Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:da17212b-2713-4e6e-846a-e71549d6eb2f.

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The chromosome constitution of human cleavage stage embryos has been extensively investi-gated using a variety of techniques, revealing high levels of aneuploidy and mosaicism. However, the final phase of preimplantation development, the blastocyst stage has received relatively little attention mostly because it is only recently that embryo culture has become sufficiently well optimised to reliabley generate blastocysts. One of the aims of this study was to examine blastocyst cytogenetics, characterising the extent and variety of aneuploidy and, where possible, determining the origin of the abnormalities detected. Both the frequency of aneuploidy and the incidence of mosaicism were significantly lower in the 52 embryos generated by 20 patients that had successfully undergone the first cellular differentiation, producing trophectoderm (TE) and inner cell mass (ICM). Valuable tools for the detailed chromosomal analysis of blastocysts, used in both research and clinical contexts, were comparative genomic hybridization (CGH) and array CGH (aCGH). However, validation of these methods, especially aCGH, was required in order to verify accuracy. A low error rate and a low misdiagnosis risk were demonstrated. The morphology of 1397 embryos at the cleavage and blastocyst stages from 229 patients was evaluated in relation to their chromosomal complement. The results obtained during this part of the project showed that, in general, there is little correlation between cleavage stage morphology and chromosome status. A weak link between morphology and aneuploidy, however, was found for embryos at the blastocyst stage. Chromosomally normal female embryos had a tendency to grow faster than male embryos at the cleavage stage and therefore tended to achieve superior morphological scores, whereas the trend was reversed at the blastocyst stage. Abnormal embryos carrying types of aneuploidy compatible with formation of a clinically recognised pregnancy had morphologies indistinguishable from those of euploid embryos. This study also aimed to utilise aCGH for the preimplantation genetic diagnosis (PGD) of imbal-ances due to structural chromosome rearrangements (e.g. translocations) in 39 carriers, a total of 139 embryos were assessed. The data obtained revealed that carriers of Robertsonian translocations are at increased risk of aneuploidy affecting additional chromosomes not involved the translocation, a phenomenon known as an interchromosomal effect (ICE). Finally, the clinical outcomes of 300 patients undergoing preimplantation genetic screening (PGS) using aCGH, for various different indications, were evaluated at both the cleavage (795 embryos) and blastocyst stages (1097 embryos). The pregnancy rate following cleavage stage biopsy was significantly lower than following blastocyst stage biopsy. The miscarriage rate was significantly reduced following PGS for patients with recurrent miscarriages. This work provided promising data supporting the clinical use of comprehensive chromosome analysis for the screening or diagnosis of preimplantation embryos and also yielded scientifically useful information concerning the frequency and nature of aneuploidy at the final stage of development before implantation.
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Connor, Jessica. "Chromosomal abnormalities identified in infants with congenital heart disease". University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307441785.

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Yang, Hui. "Chromosome dynamics and chromosomal proteins in relation to apoptotic cell death in yeast". Laramie, Wyo. : University of Wyoming, 2008. http://proquest.umi.com/pqdweb?did=1594496261&sid=1&Fmt=2&clientId=18949&RQT=309&VName=PQD.

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Mansouri, Mahmoud R. "Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6887.

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Książki na temat "Chromosomal abnormalities"

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Pai, G. Shashidhar. Handbook of chromosomal syndromes. New York: J. Wiley, 2003.

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G, Obe, i Natarajan A. T, red. Chromosomal alterations: Origin and significance. Berlin: Springer-Verlag, 1994.

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H, Nicolaides K., red. Ultrasound markers for fetal chromosomal defects. New York: Parthenon Pub. Group, 1996.

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G, Obe, i Natarajan A. T, red. Chromosomal aberrations: Basic and applied aspects. Berlin: Springer-Verlag, 1990.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 7. New York: Wiley-Liss, 1994.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 6. New York: Wiley-Liss, 1991.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 8. New York: Wiley-Liss, 1997.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 5. New York: Liss, 1989.

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Tice, Raymond R. User's guide: Chromosomal aberration data analysis and interpretation system. Las Vegas, NV: U.S. Environmental Protection Agency, Environmental Monitoring Systems Laboratory, 1991.

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R, Kirsch Ilan, red. The Causes and consequences of chromosomal aberrations. Boca Raton: CRC Press, 1993.

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Części książek na temat "Chromosomal abnormalities"

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Dwivedi, M. K. "Chromosomal Abnormalities". W Basics of Abdominal, Gynaecological, Obstetrics and Small Parts Ultrasound, 127–31. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-4873-9_6.

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Goldstein, Mark L., i Stephen Morewitz. "Chromosomal Abnormalities". W Chronic Disorders in Children and Adolescents, 31–58. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-9764-7_2.

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Hoffman, Ellen J. "Chromosomal Abnormalities". W Encyclopedia of Autism Spectrum Disorders, 635–39. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_1319.

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Hoffman, Ellen J. "Chromosomal Abnormalities". W Encyclopedia of Autism Spectrum Disorders, 950–53. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_1319.

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Pierpont, Mary Ella Mascia, Robert J. Gorlin i James H. Moller. "Chromosomal Abnormalities". W The Genetics of Cardiovascular Disease, 69–94. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4613-2305-1_4.

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Heim, S. "Chromosomal abnormalities in solid tumours". W Chromosomes Today, 163–69. Dordrecht: Springer Netherlands, 1993. http://dx.doi.org/10.1007/978-94-011-1510-0_12.

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Kalousek, Dagmar K., Naomi Fitch i Barbara A. Paradice. "Chromosomal Abnormalities and Embryonic Phenotype". W Pathology of the Human Embryo and Previable Fetus, 169–79. New York, NY: Springer New York, 1990. http://dx.doi.org/10.1007/978-1-4757-2111-9_8.

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Elia, Maurizio. "Chromosomal Abnormalities and Cortical Malformations". W Clinical Electroencephalography, 547–85. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-04573-9_33.

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Martin, Renee H. "Chromosomal Abnormalities in Human Sperm". W Aneuploidy, 91–102. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2127-9_6.

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Ács, Nándor, Ferenc Bánhidy i Andrew E. Czeizel. "Congenital Malformations, Deformations, and Chromosomal Abnormalities". W Congenital Abnormalities and Preterm Birth Related to Maternal Illnesses During Pregnancy, 425–32. Dordrecht: Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-8620-4_18.

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Streszczenia konferencji na temat "Chromosomal abnormalities"

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Tul, Nataša. "SCREENING TESTS FOR FETAL CHROMOSOMAL AND STRUCTURAL ABNORMALITIES". W Međunarodni naučni simpozij FETALNA MEDICINA: OD LEONARDA DA VINCIJA DO DANAS. Akademija nauka i umjetnosti Bosne i Hercegovine, 2015. http://dx.doi.org/10.5644/pi2015-159.03.

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Rytenkova, O. I., i A. N. Volkov. "BIOCHEMICAL PARAMETERS OF BLOOD IN PREGNANT WOMEN NORMALLY AND WITH CHROMOSOMAL PATHOLOGY OF THE FETUS". W I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/conferencearticle_63edabf15da447.93685177.

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As part of the prenatal screening of the first trimester of pregnancy, biochemical parameters of blood were analyzed in 1214 women. The level of serum markers β-hCG and PAPP-A in pregnant women are sensitive indicators of chromosomal pathology of the fetus. With trisomy on the 21st chromosome, an increase in the content of β-hCG and a decrease in the level of PAPP-A are often observed in the patient's blood. With fetal trisomy on chromosome 18, both indicators show a tendency to a significant decrease relative to the norm. It should be taken in account that both with fetal euploidy and with chromosomal abnormalities, atypical values of indicators can be established, which requires the involvement of additional markers in the analysis. In any case, biochemical analysis allows only to establish the likelihood of the presence of pathology of the fetus and attribute pregnancy to the risk group. The final conclusion about the presence or absence of chromosomal pathology can only be given by a cytogenetic analysis of the fetal material.
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Abbase, Saeid, Hassan Khotanlou, Mahlagha Afrasiabi i Atefeh Asgari. "Automatic identification of chromosomal abnormalities in metaphase karyotype using paired images in human chromosomes". W 2015 2nd International Conference on Knowledge-Based Engineering and Innovation (KBEI). IEEE, 2015. http://dx.doi.org/10.1109/kbei.2015.7436140.

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Silva, Bruno Custódio, Thais Vanessa Salvador, Jéssica Karine Hartmann, Laira Francielle Ferreira Zottis, Mateus Arenhardt de Souza, Paulo Ricardo Gazzola Zen i Rafael Fabiano Machado Rosa. "Neurological findings in a patient with mosaic chromosome 8 trisomy". W XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.071.

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Context: Mosaic chromosome 8 trisomy is a rare genetic disease that can develop with neurological abnormalities. Case report: A male patient had a deficit in weight gain since his first month of life, in addition to delayed speech and neuropsychomotor. At 2 years old, the family noticed that he did not see well, and then began an ophthalmological investigation that resulted in the diagnosis of bilateral congenital cataract. Moreover, it was observed that the child had microcephaly, epicanthus, and strabismus converging to the right. Abdominal ultrasound showed hepatosplenomegaly and asymmetric kidneys. Computed tomography scan of the skull was normal. Chest radiography showed an increase in cardiac volume. Bone scintigraphy revealed heterogeneous uptake of the tracer radius in the projection of the femoral diaphyses, in addition to bilateral distal femoral hypertension, with central hypoactivity being more evident on the left. Blood karyotype exhibited a mosaic chromosome 8 trisomy (mos 47, XY, + 8 [10] / 46, XY [12]). His first medullogram had been normal; however, the new test showed myelodysplasia. Conclusions: Mosaic chromosome 8 trisomy is a chromosomal abnormality characterized by quite varied clinical manifestations. Neurological changes may be present, among which are seizures. There is also a description of agenesis of the corpus callosum. In our case, speech and neuropsychomotor delay was noteworthy.
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Neocleous, Costas K., Kypros H. Nicolaides, Kleanthis C. Neokleous, Christos N. Schizas i Andreas C. Neocleous. "Artificial neural networks to investigate the significance of PAPPA and b-hCG for the prediction of chromosomal abnormalities". W 2011 International Joint Conference on Neural Networks (IJCNN 2011 - San Jose). IEEE, 2011. http://dx.doi.org/10.1109/ijcnn.2011.6033464.

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Hastie, Alex, Andy W. Pang, Joyce Lee, Ernest T. Lam, Thomas Anantharaman, Henry Sadowski i Mark Oldakowski. "Abstract 3543: Facile genome-wide detection of genomic fusions and other somatic chromosomal abnormalities through Bionano Whole Genome Imaging". W Proceedings: AACR Annual Meeting 2020; April 27-28, 2020 and June 22-24, 2020; Philadelphia, PA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.am2020-3543.

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Yu-Ping Wang. "Detection of chromosomal abnormalities with multi-color fluorescence in situ hybridization (M-FISH) imaging and multi-spectral wavelet analysis". W 2008 30th Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 2008. http://dx.doi.org/10.1109/iembs.2008.4649383.

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Platova, N. G. "The influence of hypomagnetic conditions on the germination of lettuce seeds and the formation of chromosomal abnormalities in the root meristem". W IX Congress of society physiologists of plants of Russia "Plant physiology is the basis for creating plants of the future". Kazan University Press, 2019. http://dx.doi.org/10.26907/978-5-00130-204-9-2019-351.

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Bachor, Ruediger, Ella D. Reich, Klaus Kleinschmidt i Richard E. Hautmann. "Detection of numerical chromosomal abnormalities (chr. 1 and 18) before and after photodynamic therapy of human bladder carcinoma cells in vitro". W BiOS Europe '97, redaktorzy Kristian Berg, Benjamin Ehrenberg, Zvi Malik, Johan Moan i Abraham Katzir. SPIE, 1997. http://dx.doi.org/10.1117/12.297814.

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TRUKHACHEV, Vladimir, Sergey OLEYNIK i Nikolay ZLYDNEV. "FEATURES OF THE KARYOTYPE OF NORTH CAUCASUS AYRSHIRE DAIRY CATTLE POPULATION: DEFECTS IN REPRODUCTIVE FUNCTIONS". W RURAL DEVELOPMENT. Aleksandras Stulginskis University, 2018. http://dx.doi.org/10.15544/rd.2017.141.

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One of the ways of improving the genotypes of dairy cattle in Russia is to increase the proportion of the Ayrshire breed, which can be justly claimed to be one of the best dairy breeds in the world. However, due to the prevalence of large-scale breeding technologies, which involves the use of a limited contingent of dairy cattle bulls, including but not limited to the Ayrshire breed, the emergence of new-born calves with various anomalies, including chromosomal, which commonly have a hereditary basis attributable to gene mutations have been observed. Given that the bulk of these anomalies are acquired by recessive inheritance, they may not always manifest themselves in the phenotype and thus represent a hidden genetic load. In recent years, the significance of cytogenetic analysis and karyotyping is becoming increasingly important, not only when considering the theoretical assumptions, but also when solving applied problems aimed at preventing damage to agricultural production. This article presents the results of the cytogenetic analysis of Ayrshire cattle affected by reproductive problems. The following has been established: an absence of changes in the diploid set of the investigated dairy cattle (2n = 60); the presence of aberrant cells, whose frequency of occurrence amounted to 3.6% in the population of 440 head (number of aberrations per aberrant cell researched – 0.036 / 1.0); the absence of reciprocal translocations in the karyotype of the investigated population. It is suggested that the existing Ayrshire sires Hannulan Yaskiyri, Riihiviidan Urho Errant, O.R.Lihting and their descendants do not have a genetic load of chromosomal abnormalities.
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