Trisomy 5p

Orpha code: 1742OMIM code:

Definition

Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.

Disease data
Classification

Malformation syndrome

Synonyms
Duplication 5p
Duplikacja 5p
Trisomia krótkiego ramienia chromosomu 5
Duplication of the short arm of chromosome 5
Trisomy of the short arm of chromosome 5
ORPHA code
1742
OMIM code
-
ICD10 code
Q92.2
ICD11 code
LD41.41

No additional description.

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