10p duplication (Q85271): Difference between revisions
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A duplicação 10p (trissomia 10p) é uma síndrome de incapcidade intelectual/malformações congênitas múltiplas (MR-MCA) que é causada pela duplicação total ou parcial do braço curto do cromossomo 10 e que resulta em um dismorfismo facial distinto, deficiências intelectual e motora graves, hipotonia muscular e hipotrofia e anomalias variáveis incluindo anomalias osteoarticulares, cardíacas, renais e oculares. | |||
| description / en | description / en | ||
10p duplication (Trisomy 10p) is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10 and that results in a distinctive facial dysmorphism, severe intellectual and motor deficiency, muscular hypotonia and hypotrophy and variable anomalies including osteoarticular, cardiac, renal and ocular anomalies. | |||
Revision as of 10:38, 15 August 2026
10p duplication (Trisomy 10p) is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10 and that results in a distinctive facial dysmorphism, severe intellectual and motor deficiency, muscular hypotonia and hypotrophy and variable anomalies including osteoarticular, cardiac, renal and ocular anomalies.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_442413368 |
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| English | 10p duplication |
10p duplication (Trisomy 10p) is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10 and that results in a distinctive facial dysmorphism, severe intellectual and motor deficiency, muscular hypotonia and hypotrophy and variable anomalies including osteoarticular, cardiac, renal and ocular anomalies. |
