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isochromosomy Yq - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isochromosomy Yq

MONDO:0020305

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Azoospermia, Male infertility, Primary gonadal insufficiency, and Decreased testicular size; and common findings: Ambiguous genitalia, Gynecomastia, and Varicocele. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

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Diagnosis

Biomarker and diagnostic research for isochromosomy Yq has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isochromosomy Yq.

200 publications have been identified in PubMed for isochromosomy Yq. Kisho has analyzed 149 by research type. Research spans Basic Science / Preclinical (44%), Epidemiology / Natural History (16%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	65	44%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98798

GARD

Genetic and Rare Diseases Info Center

GARD:19580

Questions for Your Care Team

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isochromosomy Yq

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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