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An XXXY boy with X/XY half‐sister
Author(s) -
Welch Michael J.,
Sparkes Robert S.
Publication year - 1981
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1981.tb00693.x
Subject(s) - sister , genetics , medicine , biology , sociology , anthropology
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 X g a blood studies are compatible with his extra X's originating from the mother. These X g a 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.