LD40.0
Complete trisomy 21
Trissomia completa do 21
CategoryDefinition
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
Index Terms
Complete trisomy 21Down syndromeChromosome 21 trisomyTrisomy 21 syndromeTrisomy 21 NOSabnormal autosomes 21Complete trisomy 21, meiotic non-disjunctiontrisomy 21- meiotic nondisjunctiontrisomy; syndrome, 21, meiotic nondisjunctionComplete trisomy 21, translocationchromosome; 21, trisomy, translocationtrisomy 21 - translocationtranslocation down syndrometrisomy syndrome, 21, translocation