An XXXY boy with X/XY half-sister.
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, usually in adults.
D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002871:Chromosome Banding; D002908:Chronic Disease; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008171:Lung Diseases / Q000235:genetics; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome