1981
DOI: 10.1111/j.1399-0004.1981.tb00693.x
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An XXXY boy with X/XY half‐sister

Abstract: The clinical findings in a 13‐year‐old 48, XXXY boy are described. His half‐sister (same mother) has a 45.X/XY karyotype. The Xga blood studies are compatible with his extra X's originating from the mother. These Xga studies and the IgM levels in the 48, XXXY boy raise the possibility of a gene‐dosage effect for X‐linked genes affecting these traits. The proband also has chronic pulmonary problems, an interesting association that has been noted with the Klinefelter syndrome, although usually in adults.

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