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

Rare Disease

isochromosomy Yp

MONDO:0020304

Overview

Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.

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 and Gynecomastia.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 very common features, 2 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 Yp.

200 publications have been identified in PubMed for isochromosomy Yp. Kisho has analyzed 108 by research type. Research spans Basic Science / Preclinical (45%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	49	45%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98797

GARD

Genetic and Rare Diseases Info Center

GARD:19579

Questions for Your Care Team

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isochromosomy Yp

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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