Ring chromosome Y syndrome

Orpha code: 261529OMIM code:

Definition

Ring chromosome Y syndrome is 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.

Disease data
Classification

Malformation syndrome

Synonyms
Ring chromosome Y
r(Y)
r(Y)
ORPHA code
261529
OMIM code
-
ICD10 code
Q98.6
ICD11 code
-

No additional description.

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