title: Congenital heart disease in the 48,XXYY syndrome.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University, Münster, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Meschede
authors.forename: T
authors.initials: T
authors.lastname: Nekarda
authors.forename: D
authors.initials: D
authors.lastname: Kececioglu
authors.forename: H
authors.initials: H
authors.lastname: Löser
authors.forename: J
authors.initials: J
authors.lastname: Vogt
authors.forename: P
authors.initials: P
authors.lastname: Miny
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome