Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

被引:50
作者
Cheroki, Carola
Krepischi-Santos, Ana Cristina
Rosenberg, Carla
Sarquis Jehee, Fernanda
Mingroni-Netto, Regina Celia
Pavanello Filho, Ivo
Zanforlin Filho, Sebastiao
Ae Kim, Chong
Bagnoli, Vicente R.
Mendonca, Berenice B.
Szuhai, Karoly
Otto, Paulo A.
机构
[1] Univ Sao Paulo, Inst Biociencias, Dept Genet & Evolutionary Biol, Human Genome Res Ctr,CEGH,CEPID,FAPESP, BR-05422970 Sao Paulo, Brazil
[2] Med Ctr Bela Vista, Sao Paulo, Brazil
[3] CETRUS, Ctr Treinamento Ultrasonografia, Sao Paulo, Brazil
[4] Univ Sao Paulo, Fac Med, Hosp Clin, Sao Paulo, Brazil
[5] Leiden Univ, Med Ctr, Dept Human & Clin Genet, Leiden, Netherlands
关键词
D O I
10.1002/ajmg.a.31254
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1339 / 1342
页数:4
相关论文
共 9 条
[1]   A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman [J].
Biason-Lauber, A ;
Konrad, D ;
Navratil, F ;
Schoenle, EJ .
NEW ENGLAND JOURNAL OF MEDICINE, 2004, 351 (08) :792-798
[2]  
Clément-Ziza M, 2005, AM J MED GENET A, V137A, P98
[3]   Chromosome 22q11 deletion presenting as the Potter sequence [J].
Devriendt, K ;
Moerman, P ;
VanSchoubroeck, D ;
Vandenberghe, K ;
Fryns, JP .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (05) :423-425
[4]   A common molecular basis for rearrangement disorders on chromosome 22q11 [J].
Edelmann, L ;
Pandita, RK ;
Spiteri, E ;
Funke, B ;
Goldberg, R ;
Palanisamy, N ;
Chaganti, RSK ;
Magenis, E ;
Shprintzen, RJ ;
Morrow, BE .
HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1157-1167
[5]  
Kastner P, 1997, DEVELOPMENT, V124, P313
[6]  
KUCHERIA K, 1988, INDIAN J MED RES, V87, P290
[7]  
MENDELSOHN C, 1994, DEVELOPMENT, V120, P2749
[8]   Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study [J].
Ryan, AK ;
Goodship, JA ;
Wilson, DI ;
Philip, N ;
Levy, A ;
Seidel, H ;
Schuffenhauer, S ;
Oechsler, H ;
Belohradsky, B ;
Prieur, M ;
Aurias, A ;
Raymond, FL ;
ClaytonSmith, J ;
Hatchwell, E ;
McKeown, C ;
Beemer, FA ;
Dallapiccola, B ;
Novelli, G ;
Hurst, JA ;
Ignatius, J ;
Green, AJ ;
Winter, RM ;
Brueton, L ;
BrondumNielsen, K ;
Stewart, F ;
VanEssen, T ;
Patton, M ;
Paterson, J ;
Scambler, PJ .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (10) :798-804
[9]   Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification [J].
Schouten, JP ;
McElgunn, CJ ;
Waaijer, R ;
Zwijnenburg, D ;
Diepvens, F ;
Pals, G .
NUCLEIC ACIDS RESEARCH, 2002, 30 (12) :e57