Xp deletions associated with autism in three females

被引：111

作者：

Thomas, NS ^{[1
]}

Sharp, AJ

Browne, CE

Skuse, D

Hardie, C

Dennis, NR

机构：

[1] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England

[2] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England

[3] Inst Child Hlth, Behav Sci Unit, London WC1N 1EH, England

来源：

HUMAN GENETICS | 1999年 / 104卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1007/s004390050908

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report eight females with small deletions of the short arm of the X chromosome, three of whom showed features of autism. Our results suggest that there may be a critical region for autism in females with Xp deletions between the pseudoautosomal boundary and DXS7103. We hypothesise that this effect might be due either to the loss of function of a specific gene within the deleted region or to functional nullisomy resulting from X inactivation of the normal X chromosome.

引用

页码：43 / 48

页数：6

共 31 条

[1] 2 46,XX,T(X-Y) FEMALES WITH LINEAR SKIN DEFECTS AND CONGENITAL MICROPHTHALMIA, A NEW SYNDROME AT XP22.3 [J].

ALGAZALI, LI ;

MUELLER, RF ;

CAINE, A ;

ANTONIOU, A ;

MCCARTNEY, A ;

FITCHETT, M ;

DENNIS, NR .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (01) :59-63

[2]

ALLEN RC, 1992, AM J HUM GENET, V51, P1229

[3]

Bailey A, 1998, HUM MOL GENET, V7, P571

[4] AUTISM AS A STRONGLY GENETIC DISORDER - EVIDENCE FROM A BRITISH TWIN STUDY [J].

BAILEY, A ;

LECOUTEUR, A ;

GOTTESMAN, I ;

BOLTON, P ;

SIMONOFF, E ;

YUZDA, E ;

RUTTER, M .

PSYCHOLOGICAL MEDICINE, 1995, 25 (01) :63-77

[5]

Ballabio Andrea, 1992, Human Molecular Genetics, V1, P221, DOI 10.1093/hmg/1.4.221

[6] AUTISM, MENTAL-RETARDATION, MULTIPLE EXOSTOSES AND SHORT STATURE IN A FEMALE WITH 46,X,T(X-8)(P22.13-Q22.1) [J].

BOLTON, P ;

POWELL, J ;

RUTTER, M ;

BUCKLE, V ;

YATES, JRW ;

ISHIKAWABRUSH, Y ;

MONACO, AP .

PSYCHIATRIC GENETICS, 1995, 5 (02) :51-55

[7] A very high density microsatellite map (1 STR 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region [J].

Cox, TC ;

Cox, LL ;

Ballabio, A .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (04) :406-412

[8] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[9]

Donnai D, 1995, CONGENITAL MALFORMAT, P379

[10] AN INTEGRATED PHYSICAL AND GENETIC-MAP OF A 35 MB REGION ON CHROMOSOME XP22.3-XP21.3 [J].

FERRERO, GB ;

FRANCO, B ;

ROTH, EJ ;

FIRULLI, BA ;

BORSANI, G ;

DELMASMATA, J ;

WEISSENBACH, J ;

HALLEY, G ;

SCHLESSINGER, D ;

CHINAULT, AC ;

ZOGHBI, HY ;

NELSON, DL ;

BALLABIO, A .

HUMAN MOLECULAR GENETICS, 1995, 4 (10) :1821-1827

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