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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 2 -

 

      
 

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  
  02-OU-
seg-
pter/

1-1
n.a. adult PBL n.a. acc. to array no imbalance in PBL
-----
2pter-2p25.2 (28% of the cells)
normal adult {545} case 776  
  02-OU-
seg-
q11/

1-1
female adult
65 y
PBL 46,XX
-----
2q11 to 2qter
normal female with 6 grandchildren {506} case 6  
  02-OU-
seg-
q34/

1-1
n.a. adult PBL n.a. acc. to array no imbalance in PBL
-----
2q34 to 2qter (51% of the cells)
normal adult {545} case 196  
  02-OU-
seg-
q35/

1-1
n.a. adult PBL n.a. acc. to array no imbalance in PBL
-----
2q35 to 2qter (22% of the cells)
normal adult with bladder cancer {545} case 954  
                 

 


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  
  02-
WU-
N/1-1
n.a. n.a. PBL n.a. IUGR, postnatal short stature, macrocephaly, normal development, non-dysmorphic {652} case 13  
  02-
WU-
N/2-1
n.a. n.a. PBL n.a. mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (gene DGUOK in 2p13.1)
{656; 690} 1 case  
                 

 


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  
  02-WU-
seg/
1-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 35 and 61 Mb
IUGR, postnatal short stature, macrocephaly, normal development, non-dysmorphic {652} case 14