PRENATAL ANALYSES IN A PREGNANCY AT RISK FOR BETA-MANNOSIDOSIS

被引：4
|
作者：
KLEIJER, WJ [1 ]
GEILEN, GC [1 ]
VANDIGGELEN, OP [1 ]
WEVERS, RA [1 ]
LOS, FJ [1 ]
机构：
[1] UNIV HOSP NIJMEGEN,INST NEUROL,NIJMEGEN,NETHERLANDS
来源：
PRENATAL DIAGNOSIS | 1992年 / 12卷 / 10期
关键词：
PRENATAL DIAGNOSIS; BETA-MANNOSIDOSIS; BETA-MANNOSIDASE DEFICIENCY;
D O I：
10.1002/pd.1970121011
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Prenatal analyses were performed in the pregnancy of the mother of a patient with beta-mannosidase deficiency. Partial deficiency of beta-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.
引用
收藏
页码：841 / 843
页数：3
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