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Monosomy

Known as: Monosomies, Monosomy [Disease/Finding] 
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
National Institutes of Health

Related topics

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Narrower (2)

Chromosome 21 monosomyChromosome 8 deletion

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Review
2007
Review
2007
Monosomy 1p36 deletion syndrome
Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1… 
Highly Cited
2003
Highly Cited
2003
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
Monosomy 1p36 is the most common terminal deletion syndrome. This contiguous gene deletion syndrome is presumably caused by… 
Highly Cited
2000
Highly Cited
2000
Karyotype of the abortus in recurrent miscarriage
Highly Cited
2000
Highly Cited
2000
Male specific expression suggests role of DMRT1 in human sex determination
Review
1997
Review
1997
Cytogenetic analysis of 120 primary pediatric brain tumors and literature review.
Review
1996
Review
1996
Human aneuploidy: Incidence, origin, and etiology
Chromosome abnormalities occur with astonishing frequency in humans, being present in an estimated 1030% of all fertilized eggs… 
Review
1996
Review
1996
The incidence, origin, and etiology of aneuploidy.
Review
1990
Review
1990
Characterization of chromosomal anomalies in human breast cancer. A comparison of 30 paradiploid cases with few chromosome changes.
Highly Cited
1984
Highly Cited
1984
Chromosome study of Ewing's sarcoma (ES) cell lines. Consistency of a reciprocal translocation t(11;22)(q24;q12).
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