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Partial duplication of the short arm of chromosome X

MONDO:0017009

Also known as: partial duplication of chromosome Xp, partial duplication of the short arm of chromosome type X, partial trisomy of chromosome Xp, partial trisomy of the short arm of chromosome X

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

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Sub-types

Chromosome Xp11.23-p11.22 duplication syndrome (0) Xp22.13p22.2 duplication syndrome (0)

Broader categories

Disease (680) Human disease (14) Chromosomal disorder (12) Gonosome anomaly (6) Disease of genetic or genomic mechanism (2) Chromosome X disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome X (0) Syndrome caused by partial chromosomal duplication (0)

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

Scientists dig into the mysteries of x and y chromosomes

Knowledge-focused Completed

This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:07 UTC