High-level mosaic monosomy 21 in a 13-year-old girl: Case report and review of the literature.
Am J Med Genet A
; 188(3): 953-958, 2022 03.
Article
in En
| MEDLINE
| ID: mdl-34889506
ABSTRACT
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Chromosome Disorders
/
Intellectual Disability
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Female
/
Humans
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
Chile