Trisomy 17p
Trisomy 17p
Definition
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Also known as dup(17p), trisomy type 17p — per MONDO