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[syndrome 48xxxx]
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The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism.
Acta Paediatr Scand
September 1979
A patient with 48XXXX/49XXXXX mosaicism is presented. Clinical findings include severe growth and developmental retardation, hypertelorism, mongoloid slant of the palpebral fissures, clinodactyly of the fifth fingers, retarded bone age and radio-ulnar synostosis. The findings are similar to those of the cases with a penta-X chromosome complement already described, and are also similar to the signs of the more common 49XXXXY syndrome of males.
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