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Diploid triploid mosaic
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Diploid triploid mosaic : ウィキペディア英語版
Diploid triploid mosaic

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.
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.
People usually have 46 chromosomes in the cells in the body. Chromosomes are the microscopically small structures in the nucleus of the body’s cells that carry genetic information.
In people with diploid triploid mosaicism, two populations of cells co-exist. Some cells, called diploid, have 46 chromosomes. Other cells, called triploid, have an extra set of 23 chromosomes, making 69 in all. Triploidy is not the same as trisomy. In trisomy there is an extra copy of just one chromosome, making a total of 47. Down’s syndrome is an example of trisomy, with an extra copy of chromosome 21. In triploidy, there is an extra copy of each of the 23 chromosomes, making a total of 69
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 The information out there about DTM is outdated, it is not a death sentence.
Other names for Diploid Triploid Mosaic:
# Diploidy Triploidy
# 2n/3n Mixoploidy
# Triploidy Mosaicism.
# Diploid Triploid Mosaicism
# DTM
# Mosaic Triploid
==References==




抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Diploid triploid mosaic」の詳細全文を読む



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