Catalog

5p duplication

No MMS code

Link to WHO Definition

5p duplication – http://id.who.int/icd/entity/223988065

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.