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 17 of 17 for “"Chromosome abnormalities"”.
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Chromosome abnormalities and breaks in newborn twins
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Numerical Chromosome Abnormalities in Sperm From Oligoasthenoteratozoospermic Patients and Fertile Males
… from ICSI suggest an increased frequency of sex chromosome aneuploidy in livebirths. Preliminary data by others' suggest that sperm tail swelling patterns following hypo-osmotic swelling (HOST) can be predictive of fertilizing ability. To clarify the relationship between sperm tail swelling …
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Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities
… testing (NIPT) result positive for a sex chromosome abnormality (SCA). The positive predictive 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 …
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Investigating the consequences of chromosome abnormalities arising during pre-implantation development of the mouse
… of a mixture of diploid and aneuploid cells. Chromosome abnormalities are widely believed to contribute towards the relatively low success rates of IVF treatment. Consequently major efforts have been undertaken to develop effective tools to aid the selection of embryos with minimal …
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Detection, causes and consequences of sex chromosome mosaicism
Sex chromosome mosaicism, including male mosaic loss of chromosome Y (LOY) and female mosaic loss of chromosome X (LOX), is the most common form of clonal haematopoiesis (CH) that can be defined as the age-related clonal expansion of blood cells with somatic mutations. With the decreased cost of …
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Evaluation of maternal serum triple screen as an identifier of trisomy 21 pregnancy
… 2--3% of these women actually have a fetus with chromosome abnormalities, indicating a high false positive rate. Medical records for 900 cases referred for maternal serum triple screen and maternal age were reviewed. The percentages of abnormal karyotypes in the two populations were not …
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The Crosstalk Between DNA Mismatch Repair and Replication
… MMR-dependent degradation causes DNA breaks and chromosome abnormalities, thereby promoting an ultramutator phenotype. Therefore, our findings identify a novel MMR function in triggering replication stress response to promote genome instability when replication forks are filled with biosynthetic …
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Obstetrician and Gynecologist Utilization of The Nipt Expanded Testing Option
… 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 alternative maternal serum screening options, …
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Machine Learning Techniques for Augmenting Hematological Malignancy Diagnosis
… informative recurring structural chromosomal abnormalities and serving as a clinical decision support system for clinical MFC data analysis. Most of the data used for this work are from patients with acute myeloid leukemia, but these ML algorithms can easily be extended to other indications. …
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Indentification of Abnormal Y Chromosomes in the Resident Population of Woodward State Hospital and School
… of Woodward State Hospital-School for possible Y chromosome anomalies using a quinacrine mustard staining technique. This stain causes a bright fluorescence in the distal region of the long arms of the Y chromosome, making it possible to identify the Y chromosome. Procedure. The resident …
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Cytogenetic studies of mosaicism
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Cytogenetic studies of ovarian and endometrial malignancies
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Cytogenetic abnormalities in Acute Myeloid Leukemia in Sweden. A population based study.
… more common in older patients. Patients with ≥5 chromosome abnormalities had worse overall survival than those with fewer abnormalities or normal karyotype in all age groups. Loss of 5q, 7q and/or 17p had, in contrast to MK, a further negative impact on survival. Multivariable analyses on risk …
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An X Chromatin Survey at Woodward State Hospital and Training School, an Institution for the Mentally Retarded
… locate and identify residents with X chromatin abnormalities. Procedure. Buccal smears were taken from each resident. The smears were stained with cresyl fast violet and examined under 1250X magnification. The number of Barr bodies per 100 cells was noted and recorded for each resident sampled. …
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Family Environment, Social Support, and Psychological Distress of Women Seeking BRCA1 and BRCA2 Genetic Mutation Testing
Shared characteristics and predictors of psychological distress are beginning to be identified in research on women seeking genetic testing for BRCA1 and BRCA2 gene mutations. This study further explored patterns of psychological distress for 51 community women waiting to receive such genetic test …