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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

Related topics

Related topics

3 relations
Chromosome 14, trisomy mosaic

Broader (2)

Chromosomes, Human, Pair 14Trisomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
OBJECTIVE: To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal… 
2010
2010
Chimerism resulting from parthenogenetic activation and dispermic fertilization
Whole‐body human chimerism is the result of two zygotes giving rise to one individual, and is a rarely detected condition. We… 
Highly Cited
2007
Highly Cited
2007
Idiopathic cytopenia of undetermined significance (ICUS) versus low risk MDS: the diagnostic interface.
2004
2004
The Contribution of Genetic and Epigenetic Changes in Granulosa Cell Tumors of Ovarian Origin
Purpose: Granulosa cell tumors (GCTs) are relatively rare and are subtypes of the sex-cord stromal neoplasms. A better… 
Review
2000
Review
2000
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.
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
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).
Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant… 
Review
1992
Review
1992
Natural history of mosaic trisomy 14 syndrome.
Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were… 
1983
1983
Chromosome abnormalities in B-cell prolymphocytic leukemia: a study of nine cases.
Review
1979
Review
1979
Trisomy 14 mosaicism: case report and review.
Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case… 
1972
1972
A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.
adrenals. Autoradiography of skin fibroblast culture demonstrated that the cell line with 48 chromosome included a distinctly… 
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