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diploid-triploid mosaicism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diploid-triploid mosaicism

MONDO:0022991

Also known as:Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathiaMosaic triploidydiploid/triploid mixoploidy

Overview

Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.

Diagnosis

Biomarker and diagnostic research for diploid-triploid mosaicism has been reported in the published literature.

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 diploid-triploid mosaicism.

18 publications have been identified in PubMed for diploid-triploid mosaicism. Research spans Diagnostic / Biomarker (39%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Testing and diagnosis research	7	39%

Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:10715

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diploid-triploid mosaicism

Overview

Diagnosis

Research Landscape

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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