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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or 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

mat or pat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

mat or pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

mat or pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

mat or pat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

mat or pat segmental UPD cases without clinical findings

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  03-OU-
seg-pter/
1-1
n.a. adult PBL n.a.; acc. to array no imbalance in PBL
-----
3pter to 3p21.33 (in 18% of PBL)
normal adult with bladder cancer {545} case 155  
                 

 


References

mat or 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-
WU-N/

1-1
female 15y PBL n.a. Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (gene SLC25A38 in 3p22.1)
{841} case 493
 
  03-
WU-N/

2-1 to 2-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

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

 

NO REPORTS YET

 


References

mat or pat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

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

 

NO REPORTS YET

 


References

mat or pat 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  
  03-
WU-seg-
p21.31/

1-1
male n.a. cell line from PBL CoriellGM11419

 

49,XYYYY
---------------
3p21.31 to 3p21.1

 

MR and multiple symtoms   {907}
1 case
 
 
  03-
WU-seg-
p21.31/

2-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 3p21.31 to 3p21.1
no gene identified

clinically abnormal {947} case 84