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chromosome 14 trisomy syndrome

Known as: trisomy mosaic 14, Trisomy 14, 14 trisomy 
A chromosomal abnormality consisting of the presence of a third copy of chromosome 14 in somatic cells.
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
OBJECTIVE: To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal… Expand
Highly Cited
2011
Highly Cited
2011
The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the… Expand
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Highly Cited
2008
Highly Cited
2008
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely… Expand
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Highly Cited
2008
Highly Cited
2008
BackgroundThe use of human embryonic stem cells (hESCs) in research is increasing and hESCs hold the promise for many biological… Expand
Highly Cited
2007
Highly Cited
2007
It may sometimes be difficult to diagnose low risk MDS in patients with mild cytopenia. We report on 10 patients with mild to… Expand
Highly Cited
2004
Highly Cited
2004
The present report summarizes molecular studies on the parent and meiotic stage of origin of the additional chromosome in 432… Expand
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Review
2000
Review
2000
Over the past few years, regions of genomic imprinting have been identified on a small number of chromosomes through a search for… Expand
Highly Cited
1994
Highly Cited
1994
Developmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12… Expand
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Highly Cited
1993
Highly Cited
1993
Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We… Expand
Highly Cited
1985
Highly Cited
1985
Three patients had leukocytosis of large granular lymphocytes and chronic neutropenia. Clonal chromosomal abnormalities (trisomy… Expand