Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: Evidence by microarray CGH

被引:3
作者
Moncla, A
Missirian, C
Philip, N
Marlin, S
机构
[1] Hop Enfants La Timone, Dept Genet Med, F-13385 Marseille 5, France
[2] Hop Enfants Armand Trousseau, Unite Genet Med, Serv Neurol Pediat, Paris, France
来源
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 131A卷 / 03期
关键词
D O I
10.1002/ajmg.a.30262
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:314 / 317
页数:4
相关论文
共 20 条
[1]   Identification of cryptic rearrangements in patients with 18q- deletion syndrome [J].
Brkanac, Z ;
Cody, JD ;
Leach, RJ ;
DuPont, BR .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1500-1506
[2]  
Cody JD, 1999, AM J MED GENET, V85, P455, DOI 10.1002/(SICI)1096-8628(19990827)85:5<455::AID-AJMG5>3.0.CO
[3]  
2-Z
[4]  
GAY CT, 1997, AM J MED GENET, V35, P225
[5]   Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q [J].
Gunn, SR ;
Mohammed, M ;
Reveles, XT ;
Viskochil, DH ;
Palumbos, JC ;
Johnson-Pais, TL ;
Hale, DE ;
Lancaster, JL ;
Hardies, LJ ;
Boespflug-Tanguy, O ;
Cody, JD ;
Leach, RJ .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (01) :127-135
[6]   Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of Rasmussen syndrome [J].
Julia, S ;
Pedespan, JM ;
Boudard, P ;
Barbier, R ;
Gavilan-Cellie, I ;
Chateil, JF ;
Lacombe, D .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 110 (02) :179-181
[7]  
KLINE AD, 1993, AM J HUM GENET, V52, P895
[8]   Okihiro syndrome is caused by SALL4 mutations [J].
Kohlhase, J ;
Heinrich, M ;
Schubert, L ;
Liebers, M ;
Kispert, A ;
Laccone, F ;
Turnpenny, P ;
Winter, RM ;
Reardon, W .
HUMAN MOLECULAR GENETICS, 2002, 11 (23) :2979-2987
[9]   SALL3, a New member of the human spalt-like gene family, maps to 18q23 [J].
Kohlhase, J ;
Hausmann, S ;
Stojmenovic, G ;
Dixkens, C ;
Bink, K ;
Schulz-Schaeffer, W ;
Altmann, M ;
Engel, W .
GENOMICS, 1999, 62 (02) :216-222
[10]   Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome [J].
Kohlhase, J ;
Wischermann, A ;
Reichenbach, H ;
Froster, U ;
Engel, W .
NATURE GENETICS, 1998, 18 (01) :81-83