Congenital heart disease in the 48,XXYY syndrome.
We report on an infant with severe tetralogy of Fallot, bilateral preauricular pits, and a 48,XXYY chromosomal complement. This case and evidence collected from the literature suggest that congenital heart disease may occur in the 48,XXYY syndrome more frequently than currently appreciated.
Meschede
D
D
Institute of Human Genetics, University, Münster, Germany.
Nekarda
T
T
Kececioglu
D
D
Löser
H
H
Vogt
J
J
Miny
P
P
Horst
J
J
D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome