XLMR GENES - UPDATE 1990

被引:40
作者
NERI, G
GURRIERI, F
GAL, A
LUBS, HA
机构
[1] UNIV BONN, INST HUMANGENET, W-5300 BONN, GERMANY
[2] UNIV MIAMI, DEPT PEDIAT, DIV GENET, MIAMI, FL 33152 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 2-3期
关键词
MENTAL RETARDATION; X-CHROMOSOME; LINKAGE; FRAGILE-X;
D O I
10.1002/ajmg.1320380204
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have identified 39 X-linked conditions in which mental retardation seems to be the primary characteristic, although pathogenesis is unknown. These conditions can be subdivided into syndromal and non-syndromal, depending on the existence of a recognizable pattern of minor anomalies and/or malformations, or lack thereof. Seventeen genes have been regionally mapped onto the X chronosome. However, in 14 instances the data were derived from a single family and most lod scores were less than 3.0.
引用
收藏
页码:186 / 189
页数:4
相关论文
共 34 条
[1]   COMPUTERIZED APPROACH TO X-LINKED MENTAL-RETARDATION SYNDROMES [J].
ARENA, JF ;
LUBS, HA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (2-3) :190-199
[2]   LINKAGE ANALYSIS SUGGESTS AT LEAST 2 LOCI FOR X-LINKED NON-SPECIFIC MENTAL-RETARDATION [J].
ARVEILER, B ;
ALEMBIK, Y ;
HANAUER, A ;
JACOBS, P ;
TRANEBJAERG, L ;
MIKKELSEN, M ;
PUISSANT, H ;
PIET, LL ;
MANDEL, JL .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (1-2) :473-483
[3]   A NEW X-LINKED MENTAL-RETARDATION SYNDROME [J].
ATKIN, JF ;
FLAITZ, K ;
PATIL, S ;
SMITH, W .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (04) :697-705
[4]   CLOSE LINKAGE OF FRAGILE X MENTAL-RETARDATION SYNDROME TO HEMOPHILIA-B AND TRANSMISSION THROUGH A NORMAL-MALE [J].
CAMERINO, G ;
MATTEI, MG ;
MATTEI, JF ;
JAYE, M ;
MANDEL, JL .
NATURE, 1983, 306 (5944) :701-704
[5]  
CARPENTER N J, 1988, American Journal of Human Genetics, V43, pA139
[6]   MENTAL-RETARDATION, DISTINCT FACIAL CHANGES, SHORT STATURE, OBESITY, AND HYPOGONADISM - A NEW X-LINKED MENTAL-RETARDATION SYNDROME [J].
CHUDLEY, AE ;
LOWRY, RB ;
HOAR, DI .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (04) :741-751
[7]   LOCALIZATION OF THE GENE FOR A SYNDROME OF X-LINKED SKELETAL DYSPLASIA AND MENTAL-RETARDATION TO XQ27-QTER [J].
DLOUHY, SR ;
CHRISTIAN, JC ;
HAINES, JL ;
CONNEALLY, PM ;
HODES, ME .
HUMAN GENETICS, 1987, 75 (02) :136-139
[8]  
GAL A, 1989, CYTOGENET CELL GENET, V51, P1001
[9]  
GLASS IA, 1988, CLIN GENET, V34, P397
[10]   A NEW X-LINKED MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION SYNDROME [J].
GOLABI, M ;
ITO, M ;
HALL, BD .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (01) :367-374