title: The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening.
abstract: A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.
authors.affiliation: Department of Clinical Genetics, Tampere University Hospital, Finland.
authors.forename: R H
authors.initials: RH
authors.lastname: Nyberg
authors.forename: R
authors.initials: R
authors.lastname: Karhu
authors.forename: R
authors.initials: R
authors.lastname: Karikoski
authors.forename: K O
authors.initials: KO
authors.lastname: Simola
mesh_terms: D000028:Abortion, Induced; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D000649:Amniocentesis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014960:X Chromosome; D014998:Y Chromosome; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D000509:alpha-Fetoproteins