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
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
收藏
页码:51 / 54
页数:4
相关论文
共 17 条
[11]   CURRENT CONCEPTS - MARFAN-SYNDROME - DIAGNOSIS AND MANAGEMENT [J].
PYERITZ, RE ;
MCKUSICK, VA .
NEW ENGLAND JOURNAL OF MEDICINE, 1979, 300 (14) :772-777
[12]   TWO-DIMENSIONAL ECHOCARDIOGRAPHIC AORTIC ROOT DIMENSIONS IN NORMAL-CHILDREN AND ADULTS [J].
ROMAN, MJ ;
DEVEREUX, RB ;
KRAMERFOX, R ;
OLOUGHLIN, J ;
SPITZER, M ;
ROBINS, J .
AMERICAN JOURNAL OF CARDIOLOGY, 1989, 64 (08) :507-512
[13]   GENETIC-ASPECTS OF TUBEROUS SCLEROSIS IN THE WEST OF SCOTLAND [J].
SAMPSON, JR ;
SCAHILL, SJ ;
STEPHENSON, JBP ;
MANN, L ;
CONNOR, JM .
JOURNAL OF MEDICAL GENETICS, 1989, 26 (01) :28-31
[14]  
SINCLAIR RJG, 1960, Q J MED, V29, P19
[15]   THE MARFAN-SYNDROME IN EARLY-CHILDHOOD - ANALYSIS OF 15 PATIENTS DIAGNOSED AT LESS THAN 4 YEARS OF AGE [J].
SISK, HE ;
ZAHKA, KG ;
PYERITZ, RE .
AMERICAN JOURNAL OF CARDIOLOGY, 1983, 52 (03) :353-358
[16]  
TANAKA K, 1974, JPN J HUM GENET, V19, P195
[17]   MARFANOID CHILDREN - ETIOLOGIC HETEROGENEITY AND CARDIAC FINDINGS [J].
TAYEL, S ;
KURCZYNSKI, TW ;
LEVINE, M ;
BROOKFIELD, E ;
EHRLICH, R ;
HENNESSY, JR ;
DEBEUKELAER, MM .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1991, 145 (01) :90-93