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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
2018
Highly Cited
2018
PurposeCurrent diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies… 
Highly Cited
2012
Highly Cited
2012
OBJECTIVE: To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal… 
Highly Cited
2008
Highly Cited
2008
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely… 
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… 
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… 
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… 
Highly Cited
1993
Highly Cited
1993
Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We… 
Highly Cited
1985
Highly Cited
1985
Three patients had leukocytosis of large granular lymphocytes and chronic neutropenia. Clonal chromosomal abnormalities (trisomy… 
Highly Cited
1976
Highly Cited
1976
  • K. Hirschhorn
  • Birth defects original article series
  • 1976
  • Corpus ID: 70563