Skip to main content

Table 1 Mutational analysis of candidate-genes

From: Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Patient ID TCF2 LHX1
RK104   
RK105 1654-21 C/T  
RK106   841+26 A/G
RK107   841+26 A/G
RK111 1654-21 C/T NO DNA
RK112 1653+48insC; 1654-21 C/T  
RK113 1654-21 T/T  
RK114 1654-21 C/T  
RK115   170+42 G/T
RK116 1654-21 C/T  
RK117   
RK118   676-34 C/T; 841+26 A/G
RK119   841+26 A/G
RK120 1654-21 C/T  
RK121 1653+48insC  
RK122 1654-21 T/T  
RK123 1654-21 C/T  
RK124   
RK125 1653+48insC  
RK126   
  1. List of the known polymorphisms disclosed by the mutational analysis of LHX1 and TCF2 genes in 20 selected chromosomally normal MRKH females, tested negative for 17q12 deletion.