Ring chromosome Y syndrome

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Ring chromosome Y syndrome

Synonyms: Ring chromosome Y | r(Y)

A rare chromosome Y structural anomaly with a highly variable phenotype mostly characterized by short stature partial to total gonadal failure sexual infantilism genital anomalies (e.g. ambiguous genitalia hypospadias cryptorchidism) and azoospermia or oligozoospermia. Additional reported features include speech delay obesity and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Ring chromosome Y syndrome?

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