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The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening
R H Nyberg1, R Karhu, R Karikoski
1Department of Clinical Genetics, Tampere University Hospital, Finland.
Prenatal Diagnosis
|July 1, 1994
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.
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.