Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
OBJECTIVE To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal… Expand
Is this relevant?
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
  • figure 1
  • figure 2
  • figure 3
  • table 2
  • table 1
Is this relevant?
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
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
2008
2008
Trisomy 14 mosaicism is a rare cytogenetic abnormality with a defined and recognizable clinical phenotype. We present a detailed… Expand
Is this relevant?
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
Is this relevant?
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
Is this relevant?
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
  • table I
  • table 11
  • figure 1
  • figure 2
  • table 111
Is this relevant?
1993
1993
Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We… Expand
Is this relevant?
Review
1992
Review
1992
Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were… Expand
Is this relevant?
Highly Cited
1985
Highly Cited
1985
Three patients had leukocytosis of large granular lymphocytes and chronic neutropenia. Clonal chromosomal abnormalities (trisomy… Expand
Is this relevant?