High-level mosaic monosomy 21 in a 13-year-old girl: Case report and review of the literature.

Autor: Viana MM; Serviço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais, Minas Gerais, Chile., Vianna GS; Laboratório Códon Biotecnologia, Belo Horizonte, Brazil., Carvalho ERF; Laboratório Códon Biotecnologia, Belo Horizonte, Brazil., da Costa HBBLM; Laboratório Códon Biotecnologia, Belo Horizonte, Brazil., de Aguiar MJB; Serviço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais, Minas Gerais, Chile.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 953-958. Date of Electronic Publication: 2021 Dec 10.
DOI: 10.1002/ajmg.a.62583
Abstrakt: Monosomy 21 is an exceedingly rare and fatal chromosomal anomaly. Mosaic monosomy 21, however, can be observed in living patients. There have been discussions on whether there are liveborn cases with true mosaic full monosomy 21. Here, we report the case of a 13-year-old patient with mosaic full monosomy 21 who presented with postnatal microcephaly, low weight, facial dysmorphisms, developmental delay, and severe intellectual disability. To the best of our knowledge, this is the oldest patient with mosaic full monosomy 21 described so far and the first reported in Brazil.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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