PRENATAL-DIAGNOSIS OF CHEDIAK-HIGASHI-SYNDROME

被引：10

作者：

DIUKMAN, R ^{[1
]}

TANIGAWARA, S ^{[1
]}

COWAN, MJ ^{[1
]}

GOLBUS, MS ^{[1
]}

机构：

[1] UNIV CALIF SAN FRANCISCO, MED CTR, U-262, DEPT OBSTET GYNECOL & REPROD SCI, SAN FRANCISCO, CA 94143 USA

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 11期

关键词：

PRENATAL DIAGNOSIS; FETAL BLOOD SAMPLING; AMNIOCENTESIS; CHORIONIC VILLUS SAMPLING; CHEDIAK-HIGASHI;

D O I：

10.1002/pd.1970121105

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the first prenatal diagnosis of an affected fetus with Chediak Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).

引用

页码：877 / 885

页数：9

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