Catalog
10p duplication
No MMS code
Link to WHO Definition
10p duplication – http://id.who.int/icd/entity/442413368
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.