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.

Disease data

Classification

Malformation syndrome

Synonyms

Dup(17p)

ORPHA code

261290

OMIM code

ICD10 code

Q92.2

ICD11 code

*Soruce