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Clin Lab Med. 2011 Dec;31(4):481-511, vii. doi: 10.1016/j.cll.2011.08.002.

Constitutional and acquired autosomal aneuploidy.

Author information

1
Department of Pathology, Virginia Commonwealth University, Richmond, VA 23298, USA. ccook@mcvh-vcu.edu

Abstract

Chromosomal imbalances can result from numerical or structural anomalies. Numerical chromosomal abnormalities are often referred to as aneuploid conditions. This article focuses on the occurrence of constitutional and acquired autosomal aneuploidy in humans. Topics covered include frequency, mosaicism, phenotypic findings, and etiology. The article concludes with a consideration of anticipated advances that might allow for the development of screening tests and/or lead to improvements in our understanding and management of the role that aneuploidy plays in the aging process and acquisition of age-related and constitutional conditions.

PMID:
22118733
PMCID:
PMC3269043
DOI:
10.1016/j.cll.2011.08.002
[Indexed for MEDLINE]
Free PMC Article

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