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Ring chromosome Y syndrome

Disease definition

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.

ORPHA:261529

Classification level: Disorder
  • Synonym(s):
    • Ring chromosome Y
    • r(Y)
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q98.6
  • ICD-11: LD53
  • OMIM: -
  • UMLS: C4706450
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.