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Diploid-triploid mosaicism

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.[1]   Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe.[2]  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. [1][2][3]
Last updated: 3/22/2010


  1. 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; Accessed 1/1/1900.
  2. 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; Accessed 1/1/1900.
  3. Gardner and Sutherland. Chromosome Abnormalities and Genetic Counseling, 3rd Edition. NY, NY: Oxford University Press; 2004;
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