Complete trisomy 21 (Q46751): Difference between revisions
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Trissomia do 21 é uma anormalidade cromossômica, caracterizada pela presença de uma terceira cópia (parcial ou total) do cromossomo 21, cujas manifestações clínicas incluem deficiência intelectual variável, hipotonia muscular e frouxidão articular, frequentemente associada a dismorfismo facial e malformações variáveis (essencialmente cardíacas e digestivas) e risco de complicações (epilepsia, leucemia, patologias autoimunes e endócrinas, envelhecimento precoce e doença de Alzheimer). | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:33, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD40.0 |
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| English | Complete trisomy 21 |
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. |
