ANGELMAN SYNDROME IN A DAUGHTER WITH DEL(15) (Q11Q13) ASSOCIATED WITH BRACHYCEPHALY, HEARING-LOSS, ENLARGED FORAMEN MAGNUM, AND ATAXIA IN THE MOTHER

被引:34
作者
WILLIAMS, CA
HENDRICKSON, JE
CANTU, ES
DONLON, TA
机构
[1] STANFORD UNIV, MED CTR, DEPT GENET, STANFORD, CA 94305 USA
[2] UNIV FLORIDA, DIV HUMAN GENET, GAINESVILLE, FL 32611 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1989年 / 32卷 / 03期
关键词
D O I
10.1002/ajmg.1320320312
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:333 / 338
页数:6
相关论文
共 40 条
[31]  
Pascual Pascual S I, 1986, An Esp Pediatr, V24, P311
[32]   THE ANGELMAN SYNDROME IN 2 BROTHERS [J].
PASHAYAN, HM ;
SINGER, W ;
BOVE, C ;
EISENBERG, E ;
SETO, B .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 13 (03) :295-298
[33]  
PELC S, 1976, HELV PAEDIATR ACTA, V31, P183
[34]  
Rolando S, 1983, Minerva Pediatr, V35, P727
[35]  
SEABRIGH.M, 1971, LANCET, V2, P971
[36]  
TAKANO T, 1986, CLIN GENET, V30, P241
[37]   RECURRENCE RISK IN THE ANGELMAN (HAPPY PUPPET) SYNDROME [J].
WILLEMS, PJ ;
DIJKSTRA, I ;
BROUWER, OF ;
SMIT, GPA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (04) :773-780
[38]   THE ANGELMAN (HAPPY PUPPET) SYNDROME [J].
WILLIAMS, CA ;
FRIAS, JL .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 11 (04) :453-460
[39]   INCIDENCE OF 15Q DELETIONS IN THE ANGELMAN SYNDROME - A SURVEY OF 12 AFFECTED PERSONS [J].
WILLIAMS, CA ;
GRAY, BA ;
HENDRICKSON, JE ;
STONE, JW ;
CANTU, ES .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (03) :339-345
[40]   HIGH-RESOLUTION OF HUMAN CHROMOSOMES [J].
YUNIS, JJ .
SCIENCE, 1976, 191 (4233) :1268-1270