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tetragametic chimerism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetragametic chimerism

MONDO:0016045

Also known as:46,XX/46,XY chimerism

Overview

Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.

ResearchLimited published research (6 articles)

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: Cryptorchidism, Abnormal testis morphology, Abnormal scrotum morphology, and Bifid scrotum and others; and common findings: Single transverse palmar crease.

Organ System	Phenotype Count	Example Features
Skin	1	Hypopigmented skin patches

Prognosis

Phenotype severity distribution: 16 very common features, 1 common feature.

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 tetragametic chimerism.

6 publications have been identified in PubMed for tetragametic chimerism. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).

Recent Publications

Gao L (2026). [PMID: 41289663](https://pubmed.ncbi.nlm.nih.gov/41289663/). *Forensic Sci Int Genet*. [Case Report / Case Series]
Zhang W (2025). [PMID: 41811050](https://pubmed.ncbi.nlm.nih.gov/41811050/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Shildrick M (2025). [PMID: 41250214](https://pubmed.ncbi.nlm.nih.gov/41250214/). *Biol Sex Differ*. [Review / Meta-Analysis]
Baqri W (2025). [PMID: 40913326](https://pubmed.ncbi.nlm.nih.gov/40913326/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Xue Y (2025). [PMID: 40248274](https://pubmed.ncbi.nlm.nih.gov/40248274/). *Gynecol Oncol Rep*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:199310

GARD

Genetic and Rare Diseases Info Center

GARD:20332

Questions for Your Care Team

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tetragametic chimerism

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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