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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

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 17 (0) Partial duplication of the short arm of chromosome 17 (0) Syndrome caused by partial chromosomal duplication (0)
Trials to join now! 1 Not yet finished but already full! 1 Completed 1
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  • 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

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