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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal 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 or 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  
  13-OU-
N/1-1
n.a. adult PBL n.a.; acc. to array no imbalance in PBL
whole chromosome UPD 13 in 18% of the cells
normal adult with bladder cancer {545} case 234  
  13-OU-
N/1-2
n.a. adult PBL n.a. most likely normal, maybe schizophrenia {912} 1 case  
                 

 

  


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  
  13-OU-
seg-q12.1/
1-1
n.a. adult PBL n.a.; acc. to array no imbalance in PBL
-----
13q12.1 to 13qter (in 28% of PBL) and 17pter to 17p11.2 (in 39% of PBL)
normal adult with bladder cancer {545} case 962  
                 

 


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  
  13-
WU-N/

1-1
n.a. n.a. PBL n.a.
copy number variant or 4 copies in 8pter (aCGH)
most likely dymorphic and MR
size of UPD unclear
no gene identified
{828} 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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-
WU-
imb/
1-1
male 6m PBL n.a. acc. to aCGH One copy number loss at
5p15.2

Bare lymphocyte
syndrome, type II,
complementation
group D (gene RFXAP in 13q13.3)
{828} 1 case
 
                 

 


References

mat or pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET