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Isochromosomy Yq

MONDO:0020305

Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.

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 Y disorder (0) Disease by etiologic mechanism (0) Isochromosome Y (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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