DUPLICATION OF THE DISTAL PART OF THE LONG ARM OF CHROMOSOME-1

被引:25
作者
JOHNSON, VP
机构
[1] UNIV S DAKOTA,SCH MED,DEPT PEDIAT,VERMILLION,SD 57069
[2] UNIV S DAKOTA,SCH MED,DEPT LAB MED,VERMILLION,SD 57069
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 03期
关键词
DISTAL; 1Q; TRISOMY;
D O I
10.1002/ajmg.1320390305
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A case of dup(1)(q42 --> qter) is reported. A literature review of duplication of the distal third of chromosome 1 with breakpoints at various sites, 1q23, 1q25, 1q32, and 1q42, was undertaken. Clinical similarities and differences based on the size of the duplicated segment and other associated deficiencies are summarized.
引用
收藏
页码:258 / 269
页数:12
相关论文
共 29 条
[1]   PARTIAL TRISOMY OF THE LONG ARM OF CHROMOSOME 1 DUE TO A FAMILIAL TRANSLOCATION T(1-10)(Q32-Q26) [J].
BONFANTE, A ;
STELLA, M ;
ROSSI, G .
HUMAN GENETICS, 1978, 45 (03) :339-343
[2]   OMPHALOCELE AND PARTIAL TRISOMY-1Q SYNDROME [J].
CHEN, H ;
GERSHANIK, JJ ;
MAILHES, JB ;
SANUSI, ID .
HUMAN GENETICS, 1979, 53 (01) :1-4
[3]  
FINLEY WH, 1975, AM J HUM GENET, V27, pA35
[4]  
FLATZ S, 1979, CLIN GENET, V15, P541
[5]  
FRYNS JP, 1980, ANN GENET-PARIS, V23, P181
[6]  
GAGNON JA, 1984, ANN GENET-PARIS, V27, P33
[7]  
GARRETT JH, 1975, CLIN GENET, V8, P341
[8]   PARTIAL TRISOMY OF CHROMOSOME-1 RESULTING FROM A COMPLEX MATERNAL REARRANGEMENT OF CHROMOSOME-1, CHROMOSOME-5, AND CHROMOSOME-6 [J].
HUSTINX, TWJ ;
NABBEN, FAE ;
SCHERES, JMJC .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1979, 3 (04) :353-358
[9]  
LEISTI J, 1980, CLIN GENET, V18, P371
[10]   MULTIPLE CONGENITAL ANOMALIES MENTAL RETARDATION (MCA-MR) SYNDROME DUE TO PARTIAL 1Q DUPLICATION AND POSSIBLE 18P DELETION - STUDY OF 4 INDIVIDUALS IN 2 FAMILIES [J].
LIBERFARB, RM ;
BREG, WR ;
ATKINS, L ;
HOLMES, LB .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1979, 4 (01) :27-37