FEMALE TWIN WITH HUNTER DISEASE DUE TO NONRANDOM INACTIVATION OF THE X-CHROMOSOME - A CONSEQUENCE OF TWINNING

被引：46

作者：

WINCHESTER, B

YOUNG, E

GEDDES, S

GENET, S

HURST, J

MIDDELTONPRICE, H

WILLIAMS, N

WEBB, M

HABEL, A

MALCOLM, S

机构：

[1] HOSP SICK CHILDREN,LONDON WC1N 3JH,ENGLAND

[2] INST CHILD HLTH,DIV PUBL HLTH,LONDON WC1N 1EH,ENGLAND

[3] INST CHILD HLTH,MOLEC GENET UNIT,LONDON WC1N 1EH,ENGLAND

[4] W MIDDLESEX UNIV HOSP,ISLEWORTH,MIDDX,ENGLAND

[5] ICI PLC,CELLMARK DIAGNOST,ABINGDON,OXON,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 06期

关键词：

MUCOPOLYSACCHARIDOSIS-II; IDENTICAL TWIN; NONRANDOM X-INACTIVATION;

D O I：

10.1002/ajmg.1320440625

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the occurrence of Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl who was one of identical twins. Molecular studies showed nonrandom X-inactivation in both her fibroblasts and lymphocytes, while her normal twin showed equal usage of both X chromosomes. In view of previous reports of 7 pairs of identical female twins in which one had Duchenne muscular dystrophy, it seems that twinning may be strongly associated with nonrandom X-inactivation, and is not specific to the properties of the disease causing gene.

引用

页码：834 / 838

页数：5

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