|
|||||
|
|
Prenatal diagnosis of del(15)(q11q13) |
|
| Authors: | M J Le Bris-Quillevere D Riviere E Pluchon-Riviere J J Chabaud P Parent A Volant G Boog |
| Institution: | 1. Service de Cytologie et Cytogénétique, Centre Hospitalier Universilaire et Faculté de Médecine, Université de Bretagne Occidentale, 29200 Brest, France;2. Service de Gynécologie-Obstétrlque, Centre Hospitalier Universilaire et Faculté de Médecine, Université de Bretagne Occidentale, 29200 Brest, France;3. Service de Pédiatrie, Centre Hospitalier Universilaire et Faculté de Médecine, Université de Bretagne Occidentale, 29200 Brest, France;4. Service d'Anatomic Pathologique, Centre Hospitalier Universilaire et Faculté de Médecine, Université de Bretagne Occidentale, 29200 Brest, France |
| Abstract: | A case of del(15)(q11q13) was detected in amniotic fluid cell cultures and confirmed by cordocentesis in a 27-year-old woman with a low maternal serum alpha-fetoprotein level. The fetus was shown to have a short femoral length on ultrasonography. This structural chromosome abnormality associated with the prenatal ultrasonographic findings and the morphological characteristics visualized after termination of pregnancy strongly suggest Prader-Willi syndrome. |
| Keywords: | Prader-Willi syndrome Angelman syndrome Deletion of 15q |