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Pentasomy X

MONDO:0015228

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).

Also known as: 49, XXXXX syndrome, 49,XXXXX syndrome, Penta X Syndrome, Pentasomy type X, XXXXX syndrome, penta X syndrome, penta-X, poly-X

6 clinical trials for this condition and its sub-types, 0 tagged with Pentasomy X itself.

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Part of

↑ Syndromic disease (7158) ↑ Chromosome X disorder (12) ↑ Pentasomy (0)
Including sub-types (6) Tagged with Pentasomy X (0)
Trials to join now! 3 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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