A novel 22q11.2 microdeletion in DiGeorge syndrome

被引:81
作者
Rauch, A
Pfeiffer, RA
Leipold, G
Singer, H
Tigges, M
Hofbeck, M
机构
[1] Univ Erlangen Nurnberg, Inst Humangenet, D-91054 Erlangen, Germany
[2] Univ Erlangen Nurnberg, Dept Pediat Cardiol, D-91054 Erlangen, Germany
[3] Univ Erlangen Nurnberg, Div Phoniatr & Pediat Audiol, D-91054 Erlangen, Germany
关键词
D O I
10.1086/302235
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:659 / 667
页数:9
相关论文
共 47 条
[1]   CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11 [J].
BURN, J ;
TAKAO, A ;
WILSON, D ;
CROSS, I ;
MOMMA, K ;
WADEY, R ;
SCAMBLER, P ;
GOODSHIP, J .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) :822-824
[2]   Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients [J].
Carlson, C ;
Sirotkin, H ;
Pandita, R ;
Goldberg, R ;
McKie, J ;
Wadey, R ;
Patanjali, SR ;
Weissman, SM ;
AnyaneYeboa, K ;
Warburton, D ;
Scambler, P ;
Shprintzen, R ;
Kucherlapati, R ;
Morrow, BE .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) :620-629
[3]  
Carlson C, 1997, AM J HUM GENET, V60, P851
[4]   Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome [J].
Chen, KS ;
Manian, P ;
Koeuth, T ;
Potocki, L ;
Zhao, Q ;
Chinault, AC ;
Lee, CC ;
Lupski, JR .
NATURE GENETICS, 1997, 17 (02) :154-163
[5]   The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11 [J].
Collins, JE ;
Mungall, AJ ;
Badcock, KL ;
Fay, JM ;
Dunham, I .
GENOME RESEARCH, 1997, 7 (05) :522-531
[6]  
Collins JE, 1997, GENOME RES, V7, P942
[7]   SPECTRUM OF THE DIGEORGE SYNDROME [J].
CONLEY, ME ;
BECKWITH, JB ;
MANCER, JFK ;
TENCKHOFF, L .
JOURNAL OF PEDIATRICS, 1979, 94 (06) :883-890
[8]  
Dallapiccola B, 1996, AM J HUM GENET, V59, P7
[9]   FAMILY STUDIES IN CHROMOSOME 22Q11 DELETION - FURTHER DEMONSTRATION OF PHENOTYPIC HETEROGENEITY [J].
DESILVA, D ;
DUFFTY, P ;
BOOTH, P ;
AUCHTERLONIE, I ;
MORRISON, N ;
DEAN, JCS .
CLINICAL DYSMORPHOLOGY, 1995, 4 (04) :294-303
[10]  
Devriendt K, 1997, CLIN GENET, V51, P246