ring chromosome Y
Findings
No curated finding names ring chromosome Y yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome Y 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.
Definition from the Mondo Disease Ontology (MONDO:0016853), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal spermatogenesisHPOHP:0008669
- Very frequent (80% to 99% of cases)
- AzoospermiaHPOHP:0000027
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Female infertilityHPOHP:0008222
- Very frequent (80% to 99% of cases)
- Male hypogonadismHPOHP:0000026
- Very frequent (80% to 99% of cases)
- Male infertilityHPOHP:0003251
- Very frequent (80% to 99% of cases)
- Abnormality of the female genitalia
Show the remaining 10
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Unilateral cryptorchidismHPOHP:0012741
- Frequent (30% to 79% of cases)
- Urogenital sinus anomalyHPOHP:0100779
- Frequent (30% to 79% of cases)
- Bifid scrotumHPOHP:0000048
- Occasional (5% to 29% of cases)
- GonadoblastomaHPOHP:0000150
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: ring chromosome Y
- Also called
- r(Y)Ring chromosome type Y