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     Home | Disease | 49, XXXXX



XXXXX syndrome (also called pentasomy X or 49,XXXXX) is the presence of three additional X chromosomes. Diagnosis is done by karyotyping. Approximately 25 females have been described in medical literature worldwide with this extremely rare condition. The condition was first described in 1963. XXXXX syndrome is a type of aneuploidy (an abnormal number of chromosomes).


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