Trisomy 5p
Trisomy 5p
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.
Also known as Chromosome 5, Trisomy 5p, Duplication 5p, Duplication of the short arm of chromosome 5, trisomy of the short arm of chromosome 5, trisomy type 5p — per MONDO