Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome

被引:16
作者
van Haelst, MM
Eussen, HJFMM
Visscher, F
de Ruijter, JLM
Drop, SLS
Lindhout, D
Wouters, CH
Govaerts, LCP
机构
[1] Erasmus Univ, Dept Clin Genet, NL-3016 AH Rotterdam, Netherlands
[2] Univ Hosp Dijkzigt, Dept Endocrinol, Sophia Childrens Hosp, NL-3015 GD Rotterdam, Netherlands
[3] Univ Utrecht, Med Ctr, Dept Med Genet, Utrecht, Netherlands
[4] Oosterschelde Hosp, Dept Neurol, Goes, Netherlands
关键词
D O I
10.1136/jmg.39.8.582
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:582 / 585
页数:4
相关论文
共 22 条
[1]  
BARROSNUNEZ P, 1989, ANN GENET-PARIS, V32, P97
[2]  
Broadway D C, 1998, J AAPOS, V2, P188, DOI 10.1016/S1091-8531(98)90014-3
[3]  
CLARK BJ, 1994, J PEDIATR OPHTHALMOL, V31, P41
[4]   Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome [J].
Duba, HC ;
Erdel, M ;
Loffler, J ;
Bereuther, L ;
Fischer, H ;
Utermann, B ;
Utermann, G .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) :309-313
[5]   DETECTION OF COMPLETE AND PARTIAL CHROMOSOME GAINS AND LOSSES BY COMPARATIVE GENOMIC INSITU HYBRIDIZATION [J].
DUMANOIR, S ;
SPEICHER, MR ;
JOOS, S ;
SCHROCK, E ;
POPP, S ;
DOHNER, H ;
KOVACS, G ;
ROBERTNICOUD, M ;
LICHTER, P ;
CREMER, T .
HUMAN GENETICS, 1993, 90 (06) :590-610
[6]   PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY 1Q USING FLUORESCENT IN-SITU HYBRIDIZATION [J].
DUPONT, BR ;
HUFF, RW ;
RIDGWAY, LE ;
STRATTON, RF ;
MOORE, CM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (01) :21-27
[7]  
FLATZ S, 1979, CLIN GENET, V15, P541
[8]   A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation [J].
Ghaffari, SR ;
Boyd, E ;
Tolmie, JL ;
Crow, YJ ;
Trainer, AH ;
Conner, JM .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (03) :225-233
[9]   Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? [J].
Hannula, K ;
Kere, J ;
Pirinen, S ;
Holmberg, C ;
Lipsanen-Nyman, M .
JOURNAL OF MEDICAL GENETICS, 2001, 38 (04) :273-278
[10]  
KENNERKNECHT I, 1993, HUM GENET, V36, P1157