The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening |
| |
| Authors: | Reita H. Nyberg Riitva Karhu Riitta Karikoski Kalle O. J. Simola MD |
| |
| Affiliation: | 1. Departments of Clinical Genetics, Tampere University Hospital, Tampere, Finland;2. Pathology, Tampere University Hospital, Tampere, Finland |
| |
| 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. |
| |
| Keywords: | 48,XXYY syndrome corpus callosum agenesis MS-AFP screening |
|
|
