ADDITIONAL CASE OF FEMALE MONOZYGOTIC TWINS DISCORDANT FOR THE CLINICAL MANIFESTATIONS OF DUCHENNE MUSCULAR-DYSTROPHY DUE TO OPPOSITE X-CHROMOSOME INACTIVATION

被引：29
作者：
ABBADI, N
PHILIPPE, C
CHERY, M
GILGENKRANTZ, H
TOME, F
COLLIN, H
THEAU, D
RECAN, D
BROUX, O
FARDEAU, M
KAPLAN, JC
GILGENKRANTZ, S
机构：
[1] UNIV NANCY 1,GENET LAB,F-54506 VANDOEUVRE NANCY,FRANCE
[2] INST COCHIN GENET MOLEC,F-75014 PARIS,FRANCE
[3] INSERM,U153,PARIS,FRANCE
[4] GENETHON,EVRY,FRANCE
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 02期
关键词：
X INACTIVATION; MZ DISCORDANT TWIN; DUCHENNE MUSCULAR DYSTROPHY;
D O I：
10.1002/ajmg.1320520215
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. ah inning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits. (C) 1994 Wiley-liss, Inc.
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收藏
页码：198 / 206
页数：9
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