ASCERTAINMENT AND SEVERITY OF MARFAN-SYNDROME IN A SCOTTISH POPULATION

被引：79

作者：

GRAY, JR

BRIDGES, AB

FAED, MJW

PRINGLE, T

BAINES, P

DEAN, J

BOXER, M

机构：

[1] NINEWELLS HOSP & MED SCH,DEPT CARDIOL,DUNDEE DD1 9SY,SCOTLAND

[2] NINEWELLS HOSP & MED SCH,DEPT OPHTHALMOL,DUNDEE DD1 9SY,SCOTLAND

[3] ABERDEEN ROYAL INFIRM,DEPT CLIN GENET,ABERDEEN,SCOTLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 01期

关键词：

D O I：

10.1136/jmg.31.1.51

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.

引用

页码：51 / 54

页数：4

共 17 条

[11] CURRENT CONCEPTS - MARFAN-SYNDROME - DIAGNOSIS AND MANAGEMENT [J].