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
[31]  
MORROW B, 1995, AM J HUM GENET, V56, P1391
[32]  
Morrow BE, 1997, AM J HUM GENET, V61, pA7
[33]   VELO-CARDIO-FACIAL SYNDROME AND DIGEORGE SEQUENCE WITH MENINGOMYELOCELE AND DELETIONS OF THE 22Q11 REGION [J].
NICKEL, RE ;
PILLERS, DAM ;
MERKENS, M ;
MAGENIS, RE ;
DRISCOLL, DA ;
EMANUEL, BS ;
ZONANA, J .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 52 (04) :445-449
[34]  
ODonnell H, 1997, AM J HUM GENET, V60, P1544
[35]   12 NEW POLYMORPHIC MICROSATELLITES ON HUMAN CHROMOSOME-22 [J].
PORTER, JC ;
RAM, KT ;
PUCK, JM .
GENOMICS, 1993, 15 (01) :57-61
[36]  
Rauch A, 1996, AM J MED GENET, V63, P243, DOI 10.1002/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO
[37]  
2-L
[38]  
Rauch A, 1998, AM J MED GENET, V78, P322, DOI 10.1002/(SICI)1096-8628(19980724)78:4<322::AID-AJMG4>3.0.CO
[39]  
2-N
[40]  
Rauch A, 1998, AM J MED GENET, V75, P113, DOI 10.1002/(SICI)1096-8628(19980106)75:1<113::AID-AJMG23>3.0.CO