PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME

被引：27

作者：

MCGAUGHRAN, JM

CLAYTON, PT

MILLS, KA

RIMMER, S

MOORE, L

DONNAI, D

机构：

[1] ST MARYS HOSP,DEPT RADIOL,MANCHESTER M13 0JH,LANCS,ENGLAND

[2] ST MARYS HOSP,DEPT PATHOL,MANCHESTER M13 0JH,LANCS,ENGLAND

[3] INST CHILD HLTH,DIV BIOCHEM & GENET,LONDON,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 03期

关键词：

SMITH-LEMLI-OPITZ SYNDROME; PRENATAL DIAGNOSIS; ABNORMAL CHOLESTEROL SYNTHESIS;

D O I：

10.1002/ajmg.1320560306

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An abnormality in cholesterol synthesis was described recently in the Smith-Lemli-Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis, We also discuss the possible use of this test in detecting heterozygotes. (C) 1995 Wiley-Liss, Inc.

引用

页码：269 / 271

页数：3

共 9 条

[1]

ABUELO DN, 1994, AM J MED GENET, V50, P326

[2]

AXELSON M, 1991, J LIPID RES, V32, P1441

[3] PHYTOSTEROLEMIA IN CHILDREN WITH PARENTERAL-NUTRITION ASSOCIATED CHOLESTATIC LIVER-DISEASE [J].