Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 54 for “"trisomy"”.
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The Relationship Between Satellite Association and Trisomy 'G'
… chromosomes in a young parent of a child with trisomy 'G'. It was therefore considered that there might be a predisposition towards trisomy in some families, and that satellite association was a possible factor in the production of such. The literature covering the cytogenetics and technical …
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Attitudes of Clinicians to wards Cardiac Surgery and Trisomy 18
<p>Trisomy 18 is an autosomal trisomy characterized by minor to major birth defects, severe disabilities, and high rates of pre- and neonatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding …
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Evaluation of the Short Sternum as Diagnostic Evidence for Trisomy-E
This study has demonstrated that a reliable technique for determining short sternums has been developed. Evidence for its reliability is given by two distinct and highly significant correlations.
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Evaluation of maternal serum triple screen as an identifier of trisomy 21 pregnancy
Maternal serum triple screen is used to identify women less than 35 years of age who are at an increased risk of having a fetus with Down syndrome. The screen identifies 5% of women tested as being at an increased risk but only 2--3% of these women actually have a fetus with chromosome …
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The Contribution of APP gene dosage to the molecular phenotypes of Alzheimer's disease in human trisomy 21 neurons
Down syndrome is a condition caused by trisomy 21 and occurs in 1 out of 700 births. People with trisomy 21 are high risk for developing Alzheimer’s disease, a neurodegenerative disease that causes approximately 65% of dementia. People with trisomy 21 develop Alzheimer’s disease pathologies by age …
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Human chromosomes: structure, abnormalities and birth defects
… and infertility delivered a male infant with trisomy 13. Her cultured leucocytes were mosaic for trisomy X. The natures of trisomy X and trisomy 13 are discussed with particular emphasis on the genetic transmission. In another case study of a family, it is found that some individuals who …
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The Benefits and Detriments of Aneuploidy in Cancer
… explores aneuploidy-tolerance and how trisomy 21 cells can relieve their proliferation deficit. A CRISPR screen for improved growth of trisomy 21 cells identified several genes of interest that may specifically contribute to proliferation of trisomy 21 cells. Ultimately, more work is …
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An in vivo evaluation of aneuploid hematopoietic stem cell fitness
… in vivo has been difficult because autosomal trisomy is generally embryonic lethal in mice. Here, I have evaluated hematopoietic stem cells (HSCs) derived from three aneuploid mouse models in vivo, two models of autosomal trisomy and one model of chromosome instability. By performing …
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Obstetrician and Gynecologist Utilization of The Nipt Expanded Testing Option
… detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum. Although the accuracy of NIPT for fetal aneuploidy is expected to be higher than that of currently available …
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Characterizing 3D epigenomes in pathological conditions
… in two distinct pathological contexts: Trisomy 21 neural stem cells and cells acutely infected with SARS-CoV-2. For Trisomy 21 cells, I applied a cutting-edge, combinatorial indexing-based single-cell RNA sequencing approach to chart the developmental progression of trisomic brain …
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Utilization of fish for constitutional and acquired chromosomal abnormalities for diagnostic and prognostic purposes
… five culture failure samples identified a mosaic trisomy 9 female and a mosaic tetraploid female using FISH probes in interphase cells. In the fourth and final study, PNA FISH probes were used to assess the difference between telomere lengths in newborns with trisomy 21 and normal chromosomes. …
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Molecular Pathology: Potential Biomarkers For The Detection Of Down Syndrome Pregnancies
Down Syndrome (DS), also called trisomy 21, is the most common non- lethal fetal aneuploidy that affects 1 in 800 live births. The disease appears mostly due to the existence of an extra copy of chromosome 21. In the UK, the screening of DS is offered to all pregnant women in the antena- tal care …
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Hand-in-hand? A playwright’s journey into learning-disability theatre.
… devising/writing and production of a new play, Trisomy 21, which examines issues related to Down’s Syndrome. Trisomy 21 is written with Razed Roof, an inclusive theatre company with a core group of learning-disabled practitioners/participants who also work alongside sixth form students. My …
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Developmental Differences and Altered Gene Expression in the Ts65Dn Mouse Model of Down Syndrome
Trisomy 21 occurs in approximately 1 out of 750 live births and causes brachycephaly, a small oral cavity, a shortened mid-face, and mental impairments in individuals with Down syndrome (DS). Craniofacial dysmorphology occurs in essentially all individuals with trisomy 21 and causes functional …
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Changes in buccal cytome biomarkers in relation to ageing and Alzheimer’s Disease.
… 17 and 21 aneuploidy. A 1.5 fold increase in trisomy 21 (P<0.001) and a 1.2 fold increase in trisomy 17 (P<0.001) was observed in buccal cells of Alzheimer’s patients compared to age and gender matched controls. Chromosome 17 and chromosome 21 monosomy and trisomy increase significantly with …
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Karyotypes and Case Studies of 17 Down's Syndrome Individuals
… in this study is higher than those with trisomy 21, although it is not statistically significant. No significant difference in the prevalence of mosaics among patients born to young or old mothers was evident. Recommendations. A follow-up study to determine if the mortality rate of mosaic …
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The role of GATA-1 isoforms in haematopoiesis
… in children with Down syndrome (constitutional trisomy 21). This discovery was particularly interesting, not only because the association between trisomy 21 and the X-linked GATA-1 mutation was extremely tight (being seen in 100% of the cases examined), but also because the GATA-1FL mutations …
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Genetics In The Nicu: Nurses’ Perceived Knowledge and Desired Education
… of the common trisomies (Down Syndrome, Trisomy 18, Trisomy 13), and genetic testing was a general area of weakness. Over 75% of respondents’ overall comfort scores indicated they felt generally uncomfortable with scenarios involving genetics. Perceived knowledge and overall comfort were …
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Trisomies in Hematologic Malignancies
… thesis was to address these issues, focusing on trisomy 8 as the sole cytogenetic change in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), and on high hyperdiploidy ? gains of multiple chromosomes ? in childhood acute lymphoblastic leukemia (ALL). In the first two articles, AML …
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Exploring the role of aneuploidy in phenotypic variability
… This is exemplified by the presentation of trisomy 21 (Down syndrome). The incidence of and severity of clinical features are highly variable in individuals with Down syndrome. These differences have long been attributed to genetic differences within the population altering the likelihood …
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