LD40.0
category
Complete trisomy 21
Definition
Trisomy 21 is a chromosomal abnormality, characterised by the presence of a third (partial or total) copy of chromosome 21, which clinical manifestations include variable intellectual deficiency, muscular hypotonia and joint laxity, often associated with facial dysmorphism and variable malformations (essentially heart and digestive) and a risk of complications (epilepsy, leukemia, auto-immune and endocrine pathologies, earlier aging and Alzheimer disease.
Inclusions
- Down syndrome
Also indexed as
Chromosome 21 trisomyComplete trisomy 21Complete trisomy 21, meiotic non-disjunctionComplete trisomy 21, translocationDown syndromeTrisomy 21 NOSTrisomy 21 syndromeabnormal autosomes 21chromosome; 21, trisomy, translocationtranslocation down syndrometrisomy 21 - translocationtrisomy 21- meiotic nondisjunctiontrisomy syndrome, 21, translocationtrisomy; syndrome, 21, meiotic nondisjunction