Le Bris-Quillevere M J, Riviere D, Pluchon-Riviere E, Chabaud J J, Parent P, Volant A, Boog G
Service de Cytologie et Cytogénétique, Centre Hospitalier Universitaire, Faculté de Médecine, Université de Bretagne Occidentale, Brest, France.
Prenat Diagn. 1990 Jun;10(6):405-11. doi: 10.1002/pd.1970100608.
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.
在一名母血清甲胎蛋白水平较低的27岁女性的羊水细胞培养物中检测到15号染色体长臂1区1带至1区3带缺失（del(15)(q11q13)），并经脐血穿刺术确诊。超声检查显示胎儿股骨长度较短。这种与产前超声检查结果及妊娠终止后所见形态学特征相关的染色体结构异常强烈提示普拉德-威利综合征。
