PRENATAL-DIAGNOSIS AND PRESYMPTOMATIC DETECTION OF NEUROFIBROMATOSIS TYPE-1

被引：20

作者：

UPADHYAYA, M ^{[1
]}

FRYER, A ^{[1
]}

MACMILLAN, J ^{[1
]}

BROADHEAD, W ^{[1
]}

HUSON, SM ^{[1
]}

HARPER, PS ^{[1
]}

机构：

[1] CHURCHILL HOSP,DEPT MED GENET,OXFORD OX3 7LJ,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 03期

关键词：

D O I：

10.1136/jmg.29.3.180

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A two year experience of DNA diagnosis for NF1 is presented. Twenty-three NF1 families have been analysed using 11 closely linked and intragenic markers. Prenatal testing was undertaken for six families; 11 affected subjects and their partners wished to know if they would be informative for future prenatal testing, seven of whom are so far fully informative. Presymptomatic testing was done for six subjects. Despite the availability of a series of closely linked markers, informativeness could not be achieved in all of the families tested.

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页码：180 / 183

页数：4

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