PRENATAL-DIAGNOSIS OF MUCOLIPIDOSIS TYPE-II ON 1ST-TRIMESTER AMNIOTIC-FLUID

被引：7

作者：

POENARU, L

MEZARD, C

AKLI, S

OURY, JF

DUMEZ, Y

BOUE, J

机构：

[1] HOP RENE DUBOS,SERV GYNECOL OBSTET,PONTOISE,FRANCE

[2] CHU COCHIN PORT ROYAL,F-75014 PARIS,FRANCE

[3] INSERM,U73,F-75016 PARIS,FRANCE

来源：

PRENATAL DIAGNOSIS | 1990年 / 10卷 / 04期

关键词：

Amniotic fluid lysosomal enzymes; I‐cell disease; Mucolipidosis II;

D O I：

10.1002/pd.1970100404

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy. Copyright © 1990 John Wiley & Sons, Ltd.

引用

页码：231 / 235

页数：5

共 13 条

[1]

ARNOVITZ K S, 1988, American Journal of Human Genetics, V43, pA225

[2] PRENATAL DIAGNOSIS AND FETAL PATHOLOGY OF I-CELL DISEASE (MUCOLIPIDOSIS TYPE-2) [J].