Skip to search formSkip to main contentSkip to account menu

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… 
2010
2010
Whole‐body human chimerism is the result of two zygotes giving rise to one individual, and is a rarely detected condition. We… 
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
1996
Highly Cited
1996
Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant… 
Highly Cited
1994
Highly Cited
1994
The present report summarizes molecular studies on the parent and meiotic stage of origin of the additional chromosome in 432… 
Review
1992
Review
1992
Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were… 
Review
1979
Review
1979
Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case… 
1972
1972
adrenals. Autoradiography of skin fibroblast culture demonstrated that the cell line with 48 chromosome included a distinctly…