Orphanet: Isochromosomy Yq

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Disease definition

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.

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Isochromosomy Yq

ORPHA:98798

A summary on this disease is available in Italiano (2015) Español (2018) Nederlands (2018)

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