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ring chromosome Y - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome Y

MONDO:0016853

Also known as:Ring chromosome type Yr(Y)Ring chromosome Y syndrome

Overview

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.

Diagnosis

Biomarker and diagnostic research for ring chromosome Y has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 ring chromosome Y.

15 publications have been identified in PubMed for ring chromosome Y. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	5	33%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261529

GARD

Genetic and Rare Diseases Info Center

GARD:20785

Questions for Your Care Team

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ring chromosome Y

Overview

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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