Trisomi 20p
Engelsk navn: Trisomy 20p
Engelske synonym: Dup(20p),Duplication of 20p,Partial duplication of chromosome 20p,Partial duplication of the short arm of chromosome 20,Partial trisomy of chromosome 20p,Partial trisomy of the short arm of chromosome 20
Definisjon
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
Fra Orphanet
ORPHA: 261318
Klassifiseringsnivå: Disorder
ICD-10: Q92.2
Mer informasjon
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