Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 1, Pages 26-39Publisher
WILEY
DOI: 10.1002/ajmg.a.36861
Keywords
mosaic Down syndrome; mosaicism for trisomy 21; mosaic; mosaicism; Down syndrome; trisomy 21
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The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting inmosaicism, the observation of mosaicism in the parents of children with the non-mosaic form of Down syndrome, and the variation in phenotypic outcome for both constitutional and acquired traits present in people with mosaicism for trisomy 21/Down syndrome, including cognition, fertility, and overall phenotypic findings. Additional topics reviewed include the social conditions of people with mosaicism, as well as age-related and epigenetic alterations observed in people with mosaicism for trisomy 21/Down syndrome. (C) 2014 Wiley Periodicals, Inc.
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