Dissertations / Theses on the topic 'Human chromosome 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.
Full textLahn, 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.
Full textBen, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.
Full textStudies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uniformly abnormal embryos were found mostly at the early cleavage stages, and embryos with extensive chromosome abnormalities were usually arrested by the morula stage. Chromosomal mosaicism was observed at the 2- cell stage and increased steadily with subsequent stages of development. By the blastocyst stage, chromosomal mosaicism was the main abnormality observed and affected 95% of the blastocysts. Most of the mosaic blastocysts comprised of diploid and tetraploid cells. In the second part, a detailed analysis of 121 day 7 and days 9-10 blastocysts, demonstrated that the proportion of polyploid cells in most of the morphologically good quality embryos was less than 15%, which was significantly lower than in poor quality embryos. [...]
II a ete suggere que des anomalies chromosomiques particulierement le mosaicism sont frequemment rencontres chez les embryons des bovins produit in vitro, cependant les donnees disponibles sont tres limitees. Le but principal de cette etude est d'evaluer les anomalies chromosomiques particulierement le mosaicism au different stades de developpement embryonnaire par FISH en utilisant des probes 'ADN pour les chromosomes X et Y. Nos resultats demontrent que des embryons uniformement anormales ont ete surtout trouves aux premiers stades de cleavage, temoignant que les embryons avec une vaste anomalie affectant la totalite des embryons sont souvent arretes au stade du morula. Le mosaicism chromosomique a ete rencontre dans tous les stades de developpement et il a augmente emarquablement pendant le developpement embryonnaire. Ainsi, au stade du blastocyst, le mosaicism chromosomique etait l'anomalie principale observee avec 95 % de blastocysts analyses devenant mosaiques. [...]
Clouston, Hazel J. "An investigation of chromosome abnormalities in the human blastocyst." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397361.
Full textJames, Rowena Sarah. "Genomic imprinting and the aetiology of human chromosome abnormalities." Thesis, University of Southampton, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295874.
Full textNancarrow, Julie. "Studies of fragile sites on human chromosome 16 /." Title page, abstract and contents only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phn1755.pdf.
Full textCopies of author's previously published articles inserted. Includes bibliographical references (leaves 194-222).
Glassberg, Andrea E. "Genetic testing for susceptibility to breast and ovarian cancer : a case study of clinical decision-making in medical genetics /." Thesis, Connect to this title online; UW restricted, 1997. http://hdl.handle.net/1773/10308.
Full textConn, Clare Maria. "Molecular cytogenetic analysis of chromosome abnormalities in early human embryos." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399168.
Full textDeng, Wen. "Dynamics of chromosome instability in human cells undergoing immortalization." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B31375972.
Full textDeng, Wen, and 鄧文. "Dynamics of chromosome instability in human cells undergoing immortalization." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375972.
Full textCoultas, Susan L. (Susan Lynette). "A comparison of straight-stained, Q-stained, and reverse flourescent-stained cell lines for detection of fragile sites on the human X chromosome." Thesis, North Texas State University, 1985. https://digital.library.unt.edu/ark:/67531/metadc798127/.
Full textAbogrein, Abdulmawla. "Numerical chromosome abnormalities in human sperm and embryos : correlations and mechanisms." Thesis, University of Kent, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.498815.
Full textDemczuk, Suzanne. "Genetic characterization of DiGeorge and related syndromes associated with 22q11.2 deletions." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=28726.
Full textThere appears to be a predominance of deletion-bearing mothers in familial CATCH 22 when published pedigrees are examined. Furthermore, our own familial cases and the sporadic cases where the parental origin of the deletion could be deduced using a chromosome 22 short arm heteromorphisms seem to confirm this tendency. Because we had isolated a CA-repeat locus mapping within the DGS deleted region, the parental origin of the deletion in sporadic DGS/VCFS cases was studied by assessing the inheritance pattern of this microsatellite marker. The deleted portion of chromosome 22 was of maternal origin in 16 out of 22 cases (72%). When cases of sporadic, familial and unbalanced translocation inheritance reported in the literature were pooled with these results, there appears to be a net tendency for the deletions to be of maternal origin in CATCH 22 (70 deletions of maternal origin, 21 of paternal origin, X$ sp2$ = 26.4, p $<$ 0.0001).
In order to identify the molecular defect underlying DGS, we embarked on a positional cloning approach. A detailed physical map of the 22q11.2 region was made using one- and two-color FISH on metaphases and G$ sb0$ interphase nuclei, and by hybridization to a chromosome 22 hybrid panel. This permitted delineation of a critical region, within which the breakpoint of a balanced translocation carrier affected with DGS was mapping. This breakpoint was cloned by the construction of cosmid contigs, and a novel gene mapped to this region was isolated. The gene potentially encodes an adhesion receptor, and is not interrupted by the balanced translocation breakpoint. Possible mechanisms through which this gene can be involved in the pathogenesis of DGS are presented.
This research project has contributed toward the understanding of the genetics of DGS and related syndromes. Furthermore, a candidate gene for the CATCH 22 syndromes has been isolated and further work will confirm whether it plays a major role in the pathogenesis of these syndromes.
Heritage, Mandy Leigh. "Identification and characterisation of the genetic defect that causes Alagille Syndrome : mutations in the Jagged1 gene /." [St. Lucia, Qld.], 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16914.pdf.
Full textSenft, Jamie Riemann. "Characterization of a conserved chromosome breakpoint at 10q21.3 in human and 10B5.1 in mouse possible role in cancer /." Morgantown, W. Va. : [West Virginia University Libraries], 2004. https://etd.wvu.edu/etd/controller.jsp?moduleName=documentdata&jsp%5FetdId=3767.
Full textTitle from document title page. Document formatted into pages; contains ix, 127 p. : ill. (some col.). Includes abstract. Includes bibliographical references (p. 111-127).
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.
Full textHornby, Ann Elizabeth. "Detection of a mutation in a human LCAT gene." Thesis, University of British Columbia, 1988. http://hdl.handle.net/2429/27958.
Full textMedicine, Faculty of
Medical Genetics, Department of
Graduate
BELL, CARL WAYNE. "CYTOGENETIC EVALUATION OF HUMAN GLIAL TUMORS: CORRELATION OF OVEREXPRESSION OF EPIDERMAL GROWTH FACTOR RECEPTOR (EGFR) WITH ABNORMALITIES OF CHROMOSOME 7." Diss., The University of Arizona, 1987. http://hdl.handle.net/10150/184108.
Full textCurwen, Gillian B. "G₂ chromosomal radiosensitivity in childhood and adolescent cancer survivors and their offspring." Thesis, St Andrews, 2008. http://hdl.handle.net/10023/425.
Full textOakey, Rebecca. "The structure of alphoid satellite DNA on normal and abnormal human Y chromosomes." Thesis, University of Oxford, 1989. http://ora.ox.ac.uk/objects/uuid:162cb1a7-3176-4b56-be8b-353b65fee236.
Full textChiu, Kam-hung, and 趙錦鴻. "Genetic aberrations in chronic lymphocytic leukaemia as prognostic markers." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290781.
Full textChiu, Kam-hung. "Genetic aberrations in chronic lymphocytic leukaemia as prognostic markers." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B41290781.
Full textPauls, David G. "Evangelical attitudes towards human enhancement a survey of the Midwest District of the Evangelical Free Church of America /." Theological Research Exchange Network (TREN) Theological Research Exchange Network (TREN) Access this title online, 2006. http://www.tren.com.
Full textKoen, Liezl. "Chromosomal aberrations in the Xhosa shizophrenia population /." Link to the online version, 2008. http://hdl.handle.net/10019/1697.
Full textCampbell, Tania, and n/a. "When two worlds meet : an examination of the intersection between scientific views of genetic testing and the realm of popular culture." University of Otago. Department of Anthropology, 2004. http://adt.otago.ac.nz./public/adt-NZDU20070504.112700.
Full textKazemi-Esfarjani, Parsa. "Functional analysis of the human androgen receptor using synthetic and naturally occurring mutations." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42065.
Full textIn contrast to the findings by others (McPhaul et al., 1992; Marcelli et al., 1994), in some instances involving identical mutations, I consistently observed a correlation between the biochemical phenotype of the mutant hARs and the clinical phenotype of AI individuals; that is, the more severe receptor phenotype was associated with the more severe AI. These results support the hypothesis that hAR phenotype is the dominant factor in the development of the secondary sexual characteristics in normal and affected individuals.
I also observed a tight negative correlation between polyglutamine tract length and transactivational capacity. This suggests that polyglutamine modulates the activity of the hAR, and that hAR activity might be suppressed in various androgen-sensitive tissues (including motor neurons) in SBMA individuals, thereby contributing to the age of onset and/or progression of the disease, even if it cannot be the primary pathogenic agent of the disease.
Chiu, Pui-man. "Molecular genetics of cervical cancer from chromosome number alterations to aberrant gene expressions /." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43085544.
Full textSuthers, Graeme Kemble. "The human gene map near the fragile X /." Title page, table of contents and summary only, 1990. http://web4.library.adelaide.edu.au/theses/09PH/09phs966.pdf.
Full textTypescript (Photocopy). Includes published papers co-authored by the author at the end of volume 2. Includes bibliographical references (leaves 195-237 of vol. 1).
Li, Sze-wing Vivian. "Profiling of gene expression changes in human colon crypt maturation and study of their dysregulation in tumourigenesis." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/b40203384.
Full textWong, Chi-wai. "High resolution mapping of loss of heterozygosity and chromosomal aberrations using oligonucleotide single nucleotide polymorphism genotyping arrays in colorectal adenoma to carcinoma progression." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B3871923X.
Full textMohaddes, Ardebili Seyed Mojtaba. "Optimisation of interphase fluorescence in situ hybridisation for detection of common aneuploidies." Thesis, Connect to e-thesis, 1996. http://theses.gla.ac.uk/692/.
Full textPh.D. thesis submitted to the Faculty of Medicine, Department of Division of Developmental Medicine, University of Glasgow, 1996. Includes bibliographical references: p. 118-132. Print version also available.
Terry, Samantha Y. A. "A role for topoisomerase II alpha in chromosome damage in human cell lines." Thesis, University of St Andrews, 2010. http://hdl.handle.net/10023/873.
Full textIrwin, Darryl L. "High throughput genetic analysis of limited numbers of cells /." [St. Lucia, Qld.], 2004. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe17849.pdf.
Full textLemmens, Trudo. "Genetic information and insurance : a contextual analysis of legal and regulatory means of promoting just distributions." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84213.
Full textA "thick" contextual method is used, which involves a detailed description of the medical, social, and legal context of the debate. The approach is based on Michael Walzer's theory of justice, which posits that in assessing the fairness of the distribution of a particular good, one must take into account the nature of the good as determined by the specific socio-historical context in which it obtains its shared meaning. Walzer's theory is used in the thesis to critically analyze the regulatory and legislative means introduced in several countries to curb genetic discrimination. It is further argued that Walzer's contextual analysis resembles the approach taken by the Canadian Supreme Court in the context of anti-discrimination law. Canadian human rights law is analyzed in detail to describe how genetic discrimination could be dealt with under the current provisions and how human rights law can be used to create conditions of substantive equality. The thesis concludes with an analysis of various legal and regulatory options to deal with genetic discrimination and its impact on human rights in the Canadian context. The establishment of a regulatory body is proposed, with the mandate to review the appropriateness of the use of new tests in the context of insurance. I argue that this review process, and the contextual analysis that should be involved in this process, would constitute a useful step towards creating conditions for substantive equality, not only for those who are genetically disabled, but for all those who are affected by real or perceived disabling conditions and stigmatizing traits.
Metterville, Danielle R. "Assessing Fragile X premutation carriers' knowledge of the premutation phenotype." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23257.
Full textChiu, Pui-man, and 趙佩文. "Molecular genetics of cervical cancer: from chromosome number alterations to aberrant gene expressions." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B43085544.
Full textLacroix, Mireille 1971. "Genetic information and the family : a challenge to medical confidentiality." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=80935.
Full textSimmonds, Margaret. "Girls/women in inverted commas : facing 'reality' as an XY-female." Thesis, University of Sussex, 2012. http://sro.sussex.ac.uk/id/eprint/43431/.
Full textLi, Sze-wing Vivian, and 李思穎. "Profiling of gene expression changes in human colon crypt maturation and study of their dysregulation in tumourigenesis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B40203384.
Full textLapsys, Naras Mykolas. "The FRA 16B locus : long range restriction mapping of 16q13-16q22.1 /." Title page, table of contents and summary only, 1993. http://web4.library.adelaide.edu.au/theses/09PH/09phl317.pdf.
Full textDonnelly, Andrew James. "The characterisation of human X-linked polymorphic markers and their use in disease gene localisation and identification /." Title page, table of contents and summary only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09phd6848.pdf.
Full textDomingues, Carlos Eduardo Frigério [UNESP]. "Análise de ligação e associação no genoma com gagueira desenvolvimental persistente em famílias do Estado de São Paulo-Brasil." Universidade Estadual Paulista (UNESP), 2013. http://hdl.handle.net/11449/102695.
Full textA gagueira é uma doença comum que afeta a fluência da fala, caracterizada por repetições ou prolongamentos frequentes de sons, sílaba, palavras, ou por hesitações, ou interrupções no fluxo normal da fala. Trata-se de uma doença que tipicamente surge na infância em crianças com idade entre dois e quatro anos, com taxa de incidência estimada em torno de 5% da população. No entanto devido à elevada taxa de recuperação espontânea, estima-se uma prevalência de 1% na população em geral. Apesar do envolvimento de fatores ambientais, o fator genético é determinante para o desenvolvimento da doença. Algumas evidências que sustentam essa relação são: agregação familial, estudos com gêmeos e envolvendo adoções e, relações de consanguinidade em famílias com diversos afetados. Entretanto, trata-se de uma doença complexa na qual a identificação exata do tipo de herança é difícil de ser determinada uma vez que não seguem as leis de Mendel. Este estudo teve como principal finalidade realizar análises de ligação em 43 famílias brasileiras do Estado de São Paulo, não relacionadas, portadoras de gagueira desenvolvimental persistente a fim de identificar regiões cromossômicas com possíveis genes candidatos; Para as análises de ligação, inicialmente foi realizada a genotipagem de todas as famílias através de chips específicos para essa finalidade contendo 6056 marcadores SNP. Posteriormente, para o refinamento do mapa de ligação foram utilizados marcadores microssatélites polimórficos marcados com fluoróforos e analisados em sequenciador automático capilar. Para as estimativas das frequências alélicas destes marcadores na população brasileira foram utilizados amostras do grupo controle, não relacionadas, previamente selecionadas. Apenas duas famílias (BRPD_47 e BRPD_50) sob o padrão de herança dominante...
Stuttering is a common disease that affects the fluency of speech, and is characterized by frequent repetitions or prolongations of sounds, syllables, or words, or by interruptions in the normal flow of speech. The disorder typically begins in children aged two to four years, and has an estimated incidence rate of around 5% of the population. Due to the high rate of spontaneous recovery, the estimated prevalence of the disorder is 1% in the general population. Despite the involvement of environmental factors, genetic factors have been shown to be critical to the development of the disease. Evidence supporting genetic factors include twin studies, adoption studies, family clusters of stuttering, and consanguineous relations in families with many cases of the disorder. However stuttering is a complex disorder in which the identification of the exact type of inheritance is difficult to determine because it does not follow Mendelian laws. The main goal of this study was to perform a genome-wide linkage analysis in 43 unrelated families from the Brazilian state of São Paulo, which had multiple cases of persistent developmental stuttering, in an effort to identify chromosomal regions containing possible causal genes, Linkage analysis was initially performed by genotyping of all families with chip-based methods that assayed 6056 sNP markers. Subsequent refinement of linkage locations used polymorphic microsatellite markers analyzed by capillary electrophoresis unsing an automated DNA sequencer. Unrelated normal Brazilian samples were used as a control group to estimate the allele frequencies of these markers in this population. Two families (BRPD_47 and BRPD_50) showed significant evidence for linkage in the region of chromosome 10q21 under a dominant inheritance model. Combining these two families produced... (Complete abstract click electronic access below)
Domingues, Carlos Eduardo Frigério. "Análise de ligação e associação no genoma com gagueira desenvolvimental persistente em famílias do Estado de São Paulo-Brasil /." Botucatu, 2013. http://hdl.handle.net/11449/102695.
Full textCoorientador: Dennis Drayna
Banca: Ana Maria Schiefer
Banca: Maria Isabel de Souza Aranha Melaragno
Banca: Robson Francisco Carvalho
Banca: Ester Silveira Ramos
Resumo: A gagueira é uma doença comum que afeta a fluência da fala, caracterizada por repetições ou prolongamentos frequentes de sons, sílaba, palavras, ou por hesitações, ou interrupções no fluxo normal da fala. Trata-se de uma doença que tipicamente surge na infância em crianças com idade entre dois e quatro anos, com taxa de incidência estimada em torno de 5% da população. No entanto devido à elevada taxa de recuperação espontânea, estima-se uma prevalência de 1% na população em geral. Apesar do envolvimento de fatores ambientais, o fator genético é determinante para o desenvolvimento da doença. Algumas evidências que sustentam essa relação são: agregação familial, estudos com gêmeos e envolvendo adoções e, relações de consanguinidade em famílias com diversos afetados. Entretanto, trata-se de uma doença complexa na qual a identificação exata do tipo de herança é difícil de ser determinada uma vez que não seguem as leis de Mendel. Este estudo teve como principal finalidade realizar análises de ligação em 43 famílias brasileiras do Estado de São Paulo, não relacionadas, portadoras de gagueira desenvolvimental persistente a fim de identificar regiões cromossômicas com possíveis genes candidatos; Para as análises de ligação, inicialmente foi realizada a genotipagem de todas as famílias através de chips específicos para essa finalidade contendo 6056 marcadores SNP. Posteriormente, para o refinamento do mapa de ligação foram utilizados marcadores microssatélites polimórficos marcados com fluoróforos e analisados em sequenciador automático capilar. Para as estimativas das frequências alélicas destes marcadores na população brasileira foram utilizados amostras do grupo controle, não relacionadas, previamente selecionadas. Apenas duas famílias (BRPD_47 e BRPD_50) sob o padrão de herança dominante... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Stuttering is a common disease that affects the fluency of speech, and is characterized by frequent repetitions or prolongations of sounds, syllables, or words, or by interruptions in the normal flow of speech. The disorder typically begins in children aged two to four years, and has an estimated incidence rate of around 5% of the population. Due to the high rate of spontaneous recovery, the estimated prevalence of the disorder is 1% in the general population. Despite the involvement of environmental factors, genetic factors have been shown to be critical to the development of the disease. Evidence supporting genetic factors include twin studies, adoption studies, family clusters of stuttering, and consanguineous relations in families with many cases of the disorder. However stuttering is a complex disorder in which the identification of the exact type of inheritance is difficult to determine because it does not follow Mendelian laws. The main goal of this study was to perform a genome-wide linkage analysis in 43 unrelated families from the Brazilian state of São Paulo, which had multiple cases of persistent developmental stuttering, in an effort to identify chromosomal regions containing possible causal genes, Linkage analysis was initially performed by genotyping of all families with chip-based methods that assayed 6056 sNP markers. Subsequent refinement of linkage locations used polymorphic microsatellite markers analyzed by capillary electrophoresis unsing an automated DNA sequencer. Unrelated normal Brazilian samples were used as a control group to estimate the allele frequencies of these markers in this population. Two families (BRPD_47 and BRPD_50) showed significant evidence for linkage in the region of chromosome 10q21 under a dominant inheritance model. Combining these two families produced... (Complete abstract click electronic access below)
Doutor
Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.
Full textBACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia population. AIM: The aim of the study was to combine genotypic and phenotypic data, collected in a homogenous population in a structured manner, with the hope of characterising an endophenotype that could be used for more accurate identification of individuals with possible chromosomal abnormalities. METHODOLOGY: A structured clinical interview was conducted on 112 Xhosa schizophrenia patients. (Diagnostic Interview for Genetic Studies, including Schedules for the Assessment of Negative and Positive Symptoms.) Blood samples (karyotyping and/or FISH analysis) as well as urine samples (drug screening) were obtained and nine head and facial measurements were performed. Descriptive statistics were compiled with reference to demographic, clinical and morphological variables. Comparisons between mean differences for these variables were made.
Lopes, Danilo da Silva. "Importância das alterações cromossômicas na etiologia da infertilidade /." Botucatu, 2015. http://hdl.handle.net/11449/132025.
Full textBanca: Adriana Camargo Ferrasi
Banca: Tânia Yoshico Kamiya
Resumo: Introdução: A infertilidade é definida como a incapacidade de um casal obter uma gravidez ou parto de um bebê vivo. Ela não é exclusiva da mulher, mas sim do casal, e os fatores mais comuns associados são de origem genética, como alterações dos cromossomos, incluindo também causas hormonais, anatômicas, infecciosas, imunológicas, entre outras. A definição dos tipos de alterações cromossômicas presentes em um casal com dificuldades reprodutivas é de fundamental importância para sua vida reprodutiva. Objetivo: Verificar a importância das diferentes alterações cromossômicas na etiologia da infertilidade e discutir a indicação do cariótipo nos casos de dificuldades reprodutivas. Metodologia: Estudo retrospectivo de dados de 832 indivíduos, atendidos na Faculdade de Ciências/ UNESP, Bauru, no período de Janeiro de 2005 a Dezembro de 2012, referentes a estudos cromossômicos (cariótipo de sangue periférico e abortos espontâneos) e anamnese. Resultados: Dos 832 casos, 431 foram avaliados através dos cariótipos de sangue periférico e 514 através de seus cariótipos de abortos espontâneos; 113 foram avaliados tanto pelos cariótipos de sangue como pelos cariótipos de seus abortos. A frequência das alterações cromossômicas em sangue periférico foi de 5,6%, e de 32,5 % em abortos espontâneos. Não houve correlação estatística entre ocorrência das alterações cromossômicas, sexo, idade e número de abortos. Conclusões: Na população estudada observou-se que as alterações cromossômicas são importantes na etiologia da infertilidade. As alterações cromossômicas numéricas nos abortos são as mais frequentes; contudo, sua ocorrência pode ser maior devido a possível superestimação dos cariótipos normais pela contaminação de material materno. Para prevenção de malformações congênitas, ambos os membros do casal relacionados a problemas reprodutivos devem realizar o estudo cromossômico
Abstract: Introduction: Infertility is defined as the inability of a couple of getting pregnant or give birth to a live baby. It is not only related to women, but also to the couple, and the most common factors associated are genetic, such as chromosome abnormalities as well as hormonal, anatomical, infectious and immunological causes, among others. The definition of the types of chromosomal abnormalities present in a couple with reproductive difficulties is of fundamental importance to their reproductive life. Objective: To assess the importance of different chromosomal abnormalities in the etiology of infertility and discuss the indication of the karyotype in cases of reproductive difficulties. Methodology: Karyotypes of peripheral blood and miscarriages (Chromosomal studies) and anamnesis of 832 individuals attended at the Faculdade de Ciências/ UNESP, Bauru, from January 2005 to December 2012 were assessed retrospectively. Results: Of the 832 cases, 431 were evaluated by peripheral blood karyotypes and 514 through their karyotypes of miscarriages; 113 were evaluated both by karyotypes of both blood and abortions. The frequency of chromosomal abnormalities in peripheral blood was 5.6%, and 32.5% in spontaneous abortions. There was no statistical correlation between occurrence of chromosomal abnormalities, sex, age and number of abortions. Conclusions: Chromosomal abnormalities are important in the etiology of infertility within the population studied. The numerical chromosomal abnormalities in abortions were the most common; however, its occurrence may be higher due to possible overestimation of normal karyotypes by contamination of maternal material. Aiming the prevention of congenital malformations, both couple members presenting reproductive problems should perform a chromosome study
Mestre
Lopes, Danilo da Silva [UNESP]. "Importância das alterações cromossômicas na etiologia da infertilidade." Universidade Estadual Paulista (UNESP), 2015. http://hdl.handle.net/11449/132025.
Full textIntrodução: A infertilidade é definida como a incapacidade de um casal obter uma gravidez ou parto de um bebê vivo. Ela não é exclusiva da mulher, mas sim do casal, e os fatores mais comuns associados são de origem genética, como alterações dos cromossomos, incluindo também causas hormonais, anatômicas, infecciosas, imunológicas, entre outras. A definição dos tipos de alterações cromossômicas presentes em um casal com dificuldades reprodutivas é de fundamental importância para sua vida reprodutiva. Objetivo: Verificar a importância das diferentes alterações cromossômicas na etiologia da infertilidade e discutir a indicação do cariótipo nos casos de dificuldades reprodutivas. Metodologia: Estudo retrospectivo de dados de 832 indivíduos, atendidos na Faculdade de Ciências/ UNESP, Bauru, no período de Janeiro de 2005 a Dezembro de 2012, referentes a estudos cromossômicos (cariótipo de sangue periférico e abortos espontâneos) e anamnese. Resultados: Dos 832 casos, 431 foram avaliados através dos cariótipos de sangue periférico e 514 através de seus cariótipos de abortos espontâneos; 113 foram avaliados tanto pelos cariótipos de sangue como pelos cariótipos de seus abortos. A frequência das alterações cromossômicas em sangue periférico foi de 5,6%, e de 32,5 % em abortos espontâneos. Não houve correlação estatística entre ocorrência das alterações cromossômicas, sexo, idade e número de abortos. Conclusões: Na população estudada observou-se que as alterações cromossômicas são importantes na etiologia da infertilidade. As alterações cromossômicas numéricas nos abortos são as mais frequentes; contudo, sua ocorrência pode ser maior devido a possível superestimação dos cariótipos normais pela contaminação de material materno. Para prevenção de malformações congênitas, ambos os membros do casal relacionados a problemas reprodutivos devem realizar o estudo cromossômico
Introduction: Infertility is defined as the inability of a couple of getting pregnant or give birth to a live baby. It is not only related to women, but also to the couple, and the most common factors associated are genetic, such as chromosome abnormalities as well as hormonal, anatomical, infectious and immunological causes, among others. The definition of the types of chromosomal abnormalities present in a couple with reproductive difficulties is of fundamental importance to their reproductive life. Objective: To assess the importance of different chromosomal abnormalities in the etiology of infertility and discuss the indication of the karyotype in cases of reproductive difficulties. Methodology: Karyotypes of peripheral blood and miscarriages (Chromosomal studies) and anamnesis of 832 individuals attended at the Faculdade de Ciências/ UNESP, Bauru, from January 2005 to December 2012 were assessed retrospectively. Results: Of the 832 cases, 431 were evaluated by peripheral blood karyotypes and 514 through their karyotypes of miscarriages; 113 were evaluated both by karyotypes of both blood and abortions. The frequency of chromosomal abnormalities in peripheral blood was 5.6%, and 32.5% in spontaneous abortions. There was no statistical correlation between occurrence of chromosomal abnormalities, sex, age and number of abortions. Conclusions: Chromosomal abnormalities are important in the etiology of infertility within the population studied. The numerical chromosomal abnormalities in abortions were the most common; however, its occurrence may be higher due to possible overestimation of normal karyotypes by contamination of maternal material. Aiming the prevention of congenital malformations, both couple members presenting reproductive problems should perform a chromosome study
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