SC-PHOCOMELIA SYNDROME, PREMATURE CENTROMERE SEPARATION, AND CONGENITAL CRANIAL NERVE PARALYSIS IN 2 SISTERS, ONE WITH MALIGNANT-MELANOMA

被引:47
作者
PARRY, DM
MULVIHILL, JJ
TSAI, S
KAISERKUPFER, MI
COWAN, JM
机构
[1] NEI,CLIN BRANCH,BETHESDA,MD 20205
[2] BIOTECH LABS INC,ROCKVILLE,MD
[3] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1986年 / 24卷 / 04期
关键词
D O I
10.1002/ajmg.1320240410
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:653 / 672
页数:20
相关论文
共 45 条
[1]   CYTOGENETIC AND MORPHOLOGIC ABNORMALITIES IN HUMAN BONE MARROW CELLS DURING CYTOSINE ARABINOSIDE THERAPY [J].
BELL, WR ;
WHANG, JJ ;
CARBONE, PP ;
BRECHER, G ;
BLOCK, JB .
BLOOD-THE JOURNAL OF HEMATOLOGY, 1966, 27 (06) :771-+
[2]  
Bokesoy I, 1982, Prog Clin Biol Res, V104, P351
[3]  
CHALMA Y, 1982, HUM GENET, V61, P73
[4]  
CHALMA Y, 1980, HUM GENET, V53, P249
[5]   RECENT DEVELOPMENTS IN THE PRENATAL-DIAGNOSIS OF GENETIC-DISEASES AND BIRTH-DEFECTS [J].
EPSTEIN, CJ ;
COX, DR ;
SCHONBERG, SA ;
HOGGE, WA .
ANNUAL REVIEW OF GENETICS, 1983, 17 :49-83
[6]   PREMATURE CENTROMERE DIVISION - MECHANISM OF NONDISJUNCTION CAUSING X-CHROMOSOME ANEUPLOIDY IN SOMATIC-CELLS OF MAN [J].
FITZGERALD, PH ;
PICKERING, AF ;
MERCER, JM ;
MIETHKE, PM .
ANNALS OF HUMAN GENETICS, 1975, 38 (MAY) :417-428
[7]  
FREEMAN MVR, 1974, CLIN GENET, V5, P1
[8]   TETRAPHOCOMELIA CLEFT-PALATE SYNDROME IN IDENTICAL-TWINS [J].
FRYNS, H ;
GODDEERIS, P ;
MOERMAN, F ;
HERMAN, F ;
VANDENBERGHE, H .
HUMAN GENETICS, 1980, 53 (02) :279-281
[9]  
GERMAN J, 1979, CLIN GENET, V16, P441
[10]  
GOMEZ MR, 1982, AN EXP PEDIATR, V17, P229