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Xq27.3q28 duplication syndrome

MONDO:0010467

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Also known as: Xq27.3-q28 microduplication syndrome, chromosome xq27.3-q28 duplication syndrome, X-linked recessive, dup(X)(q27.3q28), trisomy Xq27.3-q28, trisomy Xq27.3q28, chromosome Xq27.3-q28 DUPLICATION syndrome

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

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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) Partial duplication of the long arm 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
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  • 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

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