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Trisomy 17p

MONDO:0016840

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, 17p duplication, 17p trisomy, Duplication 17p, chromosome 17p duplication, partial trisomy 17p

1 clinical trial for this condition and its sub-types, 1 tagged with Trisomy 17p itself.

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Where it sits in the disease tree

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Part of

↑ Partial duplication of the short arm of chromosome 17 (18)

Including sub-types (1) Tagged with Trisomy 17p (1)

Trials to join now! 1

Massive study aims to unlock the mysteries of williams syndrome

Knowledge-focused Recruiting now

This observational study follows up to 2,000 people with Williams syndrome or related chromosome changes, along with their family members. Researchers will track health, development, behavior, and quality of life from childhood through adulthood. They are also building a biobank …

Sponsor: University of Pennsylvania • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:04 UTC

Trisomy 17p

Where it sits in the disease tree

Massive study aims to unlock the mysteries of williams syndrome