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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 3 -

 

      
 

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

pat UPD cases without clinical findings and normal karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  03-
OpU-N/
1-1
male childhood PBL 46,XY normal child {388}  
                 

 


References

pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

pat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

pat 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  
  03-
WpU-
N/1-1
male newborn. PBL n.a. Pierson syndrome (gene LAMB2 in 3p21.31)
{645}  
                 

 


References

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

 

NO REPORTS YET

 


References

pat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

pat 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  
  03-
WpU-
imb/

1-1
n.a 5y PBL 46,XN,der(3)(pterp24.1:
:p25.1qter)
in aCGH dup:
13.67-28.37 Mb
UPD(3)seg: 3pter3p25.1
in aCGH: 0-13.67 Mb
n.a. {858} case 127
 
                 

 


References

pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET