NON-PENETRANCE IN TUBEROUS SCLEROSIS

被引：32

作者：

WEBB, DW ^{[1
]}

OSBORNE, JP ^{[1
]}

机构：

[1] ROYAL UNITED HOSP,BATH UNIT RES PAEDIAT,COMBE PK,BATH BA1 3NG,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 06期

关键词：

D O I：

10.1136/jmg.28.6.417

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Non-penetrance has not been reported in tuberous sclerosis when modern non-invasive investigations have been performed. We report a four generation family in which there was a subject with minimal expression and another with non-penetrance between a great grandfather and his great grandson. This situation highlights the need for full investigation of children of tuberous sclerosis patients before counselling a low recurrence risk for the disease.

引用

页码：417 / 419

页数：3

共 11 条

[1] DIAGNOSTIC AND COUNSELING DIFFICULTIES USING A FULLY COMPREHENSIVE SCREENING PROTOCOL FOR FAMILIES AT RISK FOR TUBEROUS SCLEROSIS [J].

ALGAZALI, LI ;

ARTHUR, RJ ;

LAMB, JT ;

HAMMER, HM ;

COKER, TP ;

HIRSCHMANN, PN ;

GIBBS, J ;

MUELLER, RF .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (11) :694-703

[2] REDUCED PENETRANCE IN TUBEROUS SCLEROSIS [J].

BARAITSER, M ;

PATTON, MA .

JOURNAL OF MEDICAL GENETICS, 1985, 22 (01) :29-31

[3] THE VALUE OF INVESTIGATION FOR GENETIC-COUNSELING IN TUBEROUS SCLEROSIS [J].

FRYER, AE ;

CHALMERS, AH ;

OSBORNE, JP .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (04) :217-223

[4] TUBEROUS SCLEROSIS - A LARGE FAMILY WITH NO HISTORY OF SEIZURES OR MENTAL-RETARDATION [J].

FRYER, AE ;

OSBORNE, JP ;

TAN, R ;

SIGGERS, DC .

JOURNAL OF MEDICAL GENETICS, 1987, 24 (09) :547-548

[5]

GUNTHER M, 1935, J GENET, V31, P314

[6]

LOWRY RB, 1979, LANCET, V1, P216

[7] TUBEROUS SCLEROSIS - POSSIBLE MODIFICATION OF PHENOTYPIC EXPRESSION BY AN UNLINKED DOMINANT GENE [J].

RUSHTON, AR ;

SHAYWITZ, BA .

JOURNAL OF MEDICAL GENETICS, 1979, 16 (01) :32-35

[8] 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

[9] CARDIAC RHABDOMYOMATA IN TUBEROUS SCLEROSIS - THEIR COURSE AND DIAGNOSTIC-VALUE [J].

SMITH, HC ;

WATSON, GH ;

PATEL, RG ;

SUPER, M .

ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (02) :196-200

[10]

VASS J, 1940, ARCH PSYCHIATR NERV, V111, P547

← 1 2 →