/trisomy 5p

trisomy 5p

Rare Disease

MONDO:0015768

Also Known As

Chromosome 5, Trisomy 5pDuplication 5pDuplication of the short arm of chromosome 5trisomy of the short arm of chromosome 5trisomy type 5p5p duplication5p trisomychromosome 5p duplicationpartial 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.