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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.

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

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Gonosome anomaly (5) Disease of genetic or genomic mechanism (2) Chromosome Y disorder (0) Disease by etiologic mechanism (0) Isochromosome Y (0)
Trials to join now! 1 Not yet finished but already full! 3 Completed 2
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  • New prenatal blood test aims to detect genetic disorders without invasive procedures

    Diagnosis Recruiting now

    This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

    Sponsor: BillionToOne Inc. • Aim: Diagnosis

    Last updated Jun 27, 2026 13:06 UTC

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