chromosome 14 trisomy syndrome
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OBJECTIVE: To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal… Expand The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the… Expand Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely… Expand BackgroundThe use of human embryonic stem cells (hESCs) in research is increasing and hESCs hold the promise for many biological… Expand It may sometimes be difficult to diagnose low risk MDS in patients with mild cytopenia. We report on 10 patients with mild to… Expand The present report summarizes molecular studies on the parent and meiotic stage of origin of the additional chromosome in 432… Expand Over the past few years, regions of genomic imprinting have been identified on a small number of chromosomes through a search for… Expand Developmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12… Expand Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We… Expand Three patients had leukocytosis of large granular lymphocytes and chronic neutropenia. Clonal chromosomal abnormalities (trisomy… Expand