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 29 for “"Trisomy 21"”.
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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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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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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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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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Karyotypes and Case Studies of 17 Down's Syndrome Individuals
… ohromosome 14 and an extra ohromosome number 21. Conclusion. The observed frequency of 1.15% of translocation Down's syndrome at Woodward is lower than the 3-4% reported by other investigators. The 18.4% frequency for mosaic type Down's at Woodward is much higher than the 1-2% reported by …
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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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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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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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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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The Impact of Gamma Stimulation on Neurological Phenotypes of Alzheimer's Dementia and Down Syndrome
… cognitive phenotypes present in the setting of trisomy 21 compared to AD, we also present initial investigation into the use of GENUS in adult Ts65Dn mice, a mouse model of Down syndrome (DS). Chronic exposure resulted in significant genetic and immunohistochemical changes related to synapse …
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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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Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities
… value for SCA with NIPT is lower than seen for Trisomy 21 due to natural loss of the X chromosome from maternal cells during aging, confined placental mosaicism, and undiagnosed maternal sex chromosome abnormality. Except for 45,X, individuals with SCA usually have no ultrasound or postnatal …
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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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The burden of antenatally undiagnosed major congenital anomalies in live-born babies at a busy secondary level maternity hospital in the Western Cape
… MCA included isolated genitourinary (21%), orofacial (19%), gastrointestinal (17%) and cardiovascular defects (15%). The most prevalent syndromic MCA was Trisomy 21 (58%). Syndromic MCA was significantly associated with advanced maternal age (³36 years), increased gravidity (³5) and …
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The burden of antenatally undiagnosed major congenital anomalies in live-born babies at a busy secondary level maternity hospital in the Western Cape
… MCA included isolated genitourinary (21%), orofacial (19%), gastrointestinal (17%) and cardiovascular defects (15%). The most prevalent syndromic MCA was Trisomy 21 (58%). Syndromic MCA was significantly associated with advanced maternal age (³36 years), increased gravidity (³5) and …
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Genetic Control Of Enteric Nervous System Development And Subtype Specification
… syndrome, we characterized two mouse models of Trisomy 21. We found multiple ENS defects, including submucosal plexus hypoganglionosis, distal colon hypoganglionosis, and impaired colon motility (Chapter 5). These studies enhance our understanding of the genetic causes of motility disorders and …
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Symmetry Identified in 2-Dimensional Artwork Compositions Using Visuospatial Ability
… in Mexico City D.F., Mexico, art students with Trisomy 21 display the use of a mathematical construct in the painting compositions of their artworks. The mathematical construct is a type of symmetry and it carries a positive affect. This is important because there have been no studies that have …
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The effects of aneuploidy on gene expression in a dosage series of maize chromosome arm 1L /
… The most familiar human aneuploid condition is trisomy 21, called Down syndrome. Aneuploid conditions necessarily involve a change in the dosage of those genes which are located on the varied chromosome. However, the dosage level of a gene does not automatically correspond to the amount of RNA …
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Molecular and functional studies of ABL1 and FGFR1 fusion oncogenes in myeloproliferative neoplasms
… translocation between chromosomes 9 and 21, identified in the leukemic cells from a patient in the progressed phase of EMS, was investigated. The translocation was found to result in a truncated RUNX1 gene, suggesting that haploinsufficiency for RUNX1 could be a mechanism behind disease …
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