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The 48 4X 49 4Xy 49 4X iso chromosome yq mosaicism in a 3 year old boy from a twin pregnancy


The 48 4X 49 4Xy 49 4X iso chromosome yq mosaicism in a 3 year old boy from a twin pregnancy



Human Genetics 37(3): 355-360



ISSN/ISBN: 0340-6717

A 3 yr old boy from twin pregnancy with the features of marked dystrophia from birth, deficient growth, considerable retardation of physical and mental development, numerous somatic defects, suspected congenital heart disease, and hypoplastic external genitalia, is reported. The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) karyotype was diagnosed. The boy's brother, normally developed, had a 46,XY karyotype. It was found on the basis of serologic findings that the brothers were dizygotic twins.

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Accession: 006593896

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