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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 13 -

 

      
 

UPD-cases without clinical findings
+ normal karyotype

UPD-cases with or unclear clinical correlation + normal karyotype

 
 

UPD-cases without clinical findings
+ balanced karyotype

UPD-cases with or unclear clinical correlation + balanced karyotype

 
 

UPD-cases without clinical findings + sSMC

UPD-cases with or unclear clinical correlation + sSMC

 
 

UPD-cases without clinical findings
+ other imbalances

UPD-cases with or unclear clinical correlation + other imbalances

 
 

Segmental UPD-cases without
clinical findings

Segmental UPD-cases with or
unclear clinical correlation

 
      

 


References

mat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and balanced karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-OmU-
bal/1-1
male 5y PBL 45,XY,der(13;13)(p11.2;p11.2)mat normal male {326}  
  13-OmU-
bal/1-2
female 23y PBL 45,XX,der(13;13)(q10;q10)mat normal female {339}  
  13-OmU-
bal/1-3
male n.a. PBL 45,XY,der(13;13)(q10;q10)mat and grandpat normal male {471}  
                 

 


References

mat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

mat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and normal karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-WmU-
N/1-1
male 6y PBL n.a. prelingual hearing impairment with pointmutation in connexin26 (gene GJB2 in 13q12.11) {59} case E112  
  13-WmU-
N/1-2
female 2y PBL n.a. prelingual hearing impairment with pointmutation in connexin26 (gene GJB2 in 13q12.11) {59} case E232  
  13-WmU-
N/2-1
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

mat UPD cases with clinical findings or unclear correlation and balanced karyotype

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and other imbalances

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-WmU-
imb/1-1
female prenatal AF 46,XX,+13,der(13;13)(q10;q10)mat[2]/
45,XX,der(13;13)(q10;q10)mat[48]
n.a. {97} 1 case  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-WmU-
seg-q14.11/
1-1
female n.a. PBL n.a.
-----
13q14.11 to 13q34
Wilsons disease (gene ATP7B in 13q14.3)
{736} 1 case  
  13-WmU-
seg-q32.3/
1-1
female n.a. PBL n.a.
-----
13q32.3 to 13q33.3
propionicacidemia (gene PCCA in 13q32.3)
{651} case 1