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Partial duplication of the short arm of chromosome 17

MONDO:0016950

Also known as: partial duplication of chromosome 17p, partial duplication of the short arm of chromosome type 17, partial trisomy of chromosome 17p, partial trisomy of the short arm of chromosome 17

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

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Sub-types

Charcot-Marie-Tooth disease type 1A (12) Potocki-Lupski syndrome (1) Trisomy 17p (1) Chromosome 17p13.3 duplication syndrome (0)

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) Syndrome caused by partial chromosomal duplication (0)

Trials to join now! 9 Not yet recruiting 2 Not yet finished but already full! 1 Completed 4

10,000 genomes scoured for clues to rare brain diseases

Knowledge-focused ENROLLING_BY_INVITATION

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

Sponsor: Karolinska Institutet • Aim: Knowledge-focused

Last updated Jun 26, 2026 13:56 UTC