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

Topic mentions per year

Topic mentions per year

1968-2017
024619682017

Papers overview

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2014
2014
Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year… (More)
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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… (More)
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2008
Highly Cited
2008
  • Rossa W. K. Chiua, K. C. Allen Chana, +11 authors Y. M. Dennis Loa
  • 2008
aCentre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Departments of bChemical… (More)
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2008
Highly Cited
2008
The use of human embryonic stem cells (hESCs) in research is increasing and hESCs hold the promise for many biological, clinical… (More)
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2007
2007
It may sometimes be difficult to diagnose low risk MDS in patients with mild cytopenia. We report on 10 patients with mild to… (More)
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1996
1996
Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant… (More)
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1994
1994
Developmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12… (More)
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1994
1994
The present report summarizes molecular studies on the parent and meiotic stage of origin of the additional chromosome in 432… (More)
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1993
1993
Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We… (More)
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1985
Highly Cited
1985
Three patients had leukocytosis of large granular lymphocytes and chronic neutropenia. Clonal chromosomal abnormalities (trisomy… (More)
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