Diploid-triploid mosaicism (DTM)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.
There are thought to be over 60 people living with this disorder all over the world, it may not be a rare as we think , as more and more cases are being diagnosed yearly.The oldest living diagnosed is well in their 30's.
The children with it are happy fun loving social kids and life expectancy seems to be getting longer and longer.
Early intervention is the key, although they can have a lot of physical needs they are full of joy and love .
The information out there about DTM is outdated and it is not a death sentence.