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Diploid-triploid mosaicism (DSM) is a genetic condition caused by an abnormal number of chromosomes. Symptoms of this condition may include decreased muscle tone (hypotonia), slow growth, characteristic facial features, fusion or webbing between the fingers and/or toes (syndactyly), and unusual skin pigmentation. Intellectual disabilities may be present. DSM occurs when a person has some cells with three copies of each chromosome for a total of 69 chromosomes (triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (diploid cells). Having two or more different cell types is called mosaicism. Diagnosis is made through a clinical exam and a skin biopsy. Treatment is focused on managing the symptoms.
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