title: Antenatal diagnosis of 45,X/48,XYYY.
abstract: A diagnosis of 45,X/48,XYYY was made antenatally. Counseling this case was hampered by the paucity of literature describing the phenotype of patients with this chromosome constitution. The fetus had ambiguous external genitalia, a horseshoe kidney, a cerebral cortical cyst and arachnodactyly.
authors.affiliation: Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut 06510.
authors.forename: C R
authors.initials: CR
authors.lastname: Bryke
authors.forename: M J
authors.initials: MJ
authors.lastname: Mahoney
authors.forename: T L
authors.initials: TL
authors.lastname: Yang-Feng
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005333:Fetus; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014998:Y Chromosome