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|Description||:|| XXXXX syndrome (also called pentasomy X or 49,XXXXX) is a type of aneuploidy (an abnormal number of chromosomes) which results in the presence of three additional X chromosomes. The condition was first described in 1963. It is characterised by severe mental retardation, short stature and abnormalities to the head and face. As these features can be seen in other conditions, karyotyping must be carried out to confirm diagnosis. There have been cases of XXXXX syndrome being misdiagnosed as Down syndrome. |
It is an extremely rare condition with no more than 30 patients reported in medical literature. The exact incidence is not known but it may be similar to the rate of 1 in 85,000 seen in males with 49, XXXXY syndrome.
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