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.