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
[11]   ISOLATION OF MOLECULAR PROBES ASSOCIATED WITH THE CHROMOSOME-15 INSTABILITY IN THE PRADER-WILLI SYNDROME [J].
DONLON, TA ;
LALANDE, M ;
WYMAN, A ;
BRUNS, G ;
LATT, SA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (12) :4408-4412
[12]   THE PUPPET-LIKE SYNDROME OF ANGELMAN [J].
DOOLEY, JM ;
BERG, JM ;
PAKULA, Z ;
MACGREGOR, DL .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1981, 135 (07) :621-624
[13]  
EBER SW, 1986, MONATSSCHR KINDERH, V134, P158
[14]   14 HAPPY PUPPETS - 2 NEW CASES AND A REVIEW [J].
ELIAN, M .
CLINICAL PEDIATRICS, 1975, 14 (10) :902-907
[15]   ANGELMAN (HAPPY PUPPET) SYNDROME IN A GIRL AND HER BROTHER [J].
FISHER, JA ;
BURN, J ;
ALEXANDER, FW ;
GARDNERMEDWIN, D .
JOURNAL OF MEDICAL GENETICS, 1987, 24 (05) :294-298
[16]  
Godfrey M, 1976, Nurs Mirror Midwives J, V143, P45
[17]   DELETIONS OF PROXIMAL 15Q WITHOUT PRADER-WILLI SYNDROME [J].
GREENBERG, F ;
LEDBETTER, DH .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (04) :813-820
[18]  
HALAL F, 1976, UNION MED CAN, V105, P1077
[19]   COMPUTERIZED-TOMOGRAPHY OF THE FORAMEN MAGNUM - ACHONDROPLASTIC VALUES COMPARED TO NORMAL STANDARDS [J].
HECHT, JT ;
NELSON, FW ;
BUTLER, IJ ;
HORTON, WA ;
SCOTT, CI ;
WASSMAN, ER ;
MEHRINGER, CM ;
RIMOIN, DL ;
PAULI, RM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (02) :355-360
[20]  
HERSH JH, 1981, DEV MED CHILD NEUROL, V23, P792