VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene

被引：0

作者：

Cox, PM

Gibson, RA

Morgan, N

Brueton, LA

机构：

[1] UMDS,GUYS HOSP,DIV MED & MOL GENET,LONDON,ENGLAND

[2] NORTHWICK PK HOSP & CLIN RES CTR,KENNEDY GALTON CTR,HARROW HA1 3UJ,MIDDX,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 68卷 / 01期

关键词：

Fanconi anemia; VACTERL; hydrocephalus;

D O I：

10.1002/(SICI)1096-8628(19970110)68:1<86::AID-AJMG17>3.0.CO;2-K

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a dizygotic twin pair each with ventriculomegaly, a radial ray defect and multiple malformations in keeping with the VACTERL association. Molecular studies demonstrated that both are homozygous for IVS4 + 4 A-->T, a mutation in the Fanconi anemia complementation group C gene. This is the first molecular proof that VACTERL with hydrocephalus may be the result of severe Fanconi anemia. (C) 1997 Wiley-Liss, Inc.

引用

页码：86 / 90

页数：5

共 12 条

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