PARTIAL DUPLICATION OF THE SHORT ARM OF CHROMOSOME-9 (P13-]P22) IN A CHILD WITH TYPICAL 9P-TRISOMY PHENOTYPE

被引:29
作者
FRYNS, JP [1 ]
CASAER, P [1 ]
VANDENBERGHE, H [1 ]
机构
[1] DEPT PEDIAT,B-3000 LEUVEN,BELGIUM
关键词
D O I
10.1007/BF00291926
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 3-year-old girl with duplication 9 (p22→p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome. © 1979 Springer-Verlag.
引用
收藏
页码:231 / 235
页数:5
相关论文
共 11 条
[1]   FAMILIAL PARTIAL 9P-TRISOMY - 6 CASES AND 4 CARRIERS IN 3 GENERATIONS [J].
CENTERWALL, WR ;
MILLER, KS ;
REEVES, LM .
JOURNAL OF MEDICAL GENETICS, 1976, 13 (01) :57-61
[2]  
CENTERWALL WR, 1975, PEDIATRICS, V56, P746
[3]   POSSIBLE INTRACHROMOSOMAL DUPLICATION IN A CASE OF TRISOMY-9P [J].
CHIYO, H ;
FURUYAMA, J ;
SUEHARA, N ;
OBASHI, Y ;
KIKKAWA, H ;
IKOMA, F .
HUMAN GENETICS, 1976, 34 (02) :217-221
[4]  
GROUCHY JD, 1977, ATLAS MALADIES CHROM, P98
[5]  
HOWARDPEEBLES PN, 1977, CLIN GENET, V11, P46
[6]   TRISOMY FOR DISTAL HALF OF SHORT ARM OF CHROMOSOME-9 [J].
LEWANDOWSKI, RC ;
YUNIS, JJ ;
LEHRKE, R ;
OLEARY, J ;
SWAIMAN, KF ;
SANCHEZ, O .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1976, 130 (06) :663-667
[7]  
LIN CC, 1977, J MENT DEFIC RES, V21, P309
[8]   GIEMSA-R-BANDING ANALYSIS OF TRISOMY 9P AND REPORT OF A NEW CASE [J].
RETHORE, MO ;
HOEHN, H ;
ROTT, HD ;
COUTURIER, J ;
DUTRILLAUX, B ;
LEJEUNE, J .
HUMANGENETIK, 1973, 18 (02) :129-138
[9]  
RETHORE MO, 1970, ANN GENET-PARIS, V13, P217
[10]   PARTIAL AND COMPLETE TRISOMY-9 - DELINEATION OF A TRISOMY-9 SYNDROME [J].
SUTHERLAND, GR ;
CARTER, RF ;
MORRIS, LL .
HUMAN GENETICS, 1976, 32 (02) :133-140