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

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 mon...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-03, Vol.188 (3), p.953-958
Main Authors: Viana, Melissa Machado, Vianna, Gabrielle Sousa, Carvalho, Elen Rose Fontoura, Costa, Helena Beatriz Belo Lisboa Martins, Aguiar, Marcos José Burle
Format: Article
Language:English
Subjects:
Adolescent
Brazil
Case reports
chromosome 21
Chromosome Disorders
Chromosomes, Human, Pair 21
cognitive impairment
developmental delay
Female
Humans
Intellectual disabilities
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Literature reviews
Microcephaly
Monosomy
Monosomy - genetics
mosaic
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62583