Matches in DBpedia 2015-10 for { ?s ?p "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."@en }
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- 49,_XXXXX comment "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.".