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Other Names for this Disease
- Diploid/triploid mixoploidy
- Diploid/triploid mosaicism
- Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia
- Mosaic triploidy
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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 with truncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth, mild differences in facial 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. 
- van de Laar, I; Rabelink, G.; Hochstenbach R.; Tuerlings, J.; Hoogeboom, J.; Giltay, J.. Diploid triploid mosaicism in dysmorphic patients. Clinical Genetics. July 26, 2002. http://www.ncbi.nlm.nih.gov/pubmed/12431252.
- Rittinger, O; Kronberger, G; Pfeifenberger, A; Kotzot, D; Fauth, C. The changing phenotype in diploid triploid mosaicism may mimic genetic syndrome with aberrant genomic imprinting: Follow up in a 14 year old girl. European Journal of Medical Genetics. July 26, 2008. http://www.ncbi.nlm.nih.gov/pubmed/18706534.
- Gardner and Sutherland. Chromosome Abnormalities and Genetic Counseling, 3rd Edition. NY, NY: Oxford University Press; 2004.
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