isochromosomy Yq
MONDO:0020305Mondo
Findings
No curated finding names isochromosomy Yq yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0020305), read 2026-09-29. CC BY 4.0.
Features
8 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.
- AzoospermiaHPOHP:0000027
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Male infertilityHPOHP:0003251
- Very frequent (80% to 99% of cases)
- Primary gonadal insufficiencyHPOHP:0008193
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- GynecomastiaHPOHP:0000771
- Frequent (30% to 79% of cases)
- VaricoceleHPOHP:0012871
- Frequent (30% to 79% of cases)
- Gonadal tissue inappropriate for external genitalia or chromosomal sexHPOHP:0003248
- Occasional (5% to 29% of cases)
Where it sits
- A kind of