Prenatal diagnosis of del(15)(q11q13).
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.
Le Bris-Quillevere
M J
MJ
Service de Cytologie et Cytogénétique, Centre Hospitalier Universitaire, Faculté de Médecine, Université de Bretagne Occidentale, Brest, France.
Riviere
D
D
Pluchon-Riviere
E
E
Chabaud
J J
JJ
Parent
P
P
Volant
A
A
Boog
G
G
D000328:Adult; D000649:Amniocentesis; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007621:Karyotyping; D011218:Prader-Willi Syndrome / Q000175:diagnosis*; D011247:Pregnancy; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins