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Prenatal diagnosis of del(15)(q11q13)
M J Le Bris-Quillevere1, D Riviere, E Pluchon-Riviere
1Service de Cytologie et Cytogénétique, Centre Hospitalier Universitaire, Faculté de Médecine, Université de Bretagne Occidentale, Brest, France.
Prenatal Diagnosis
|June 1, 1990
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.