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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 4 -

 

      
 

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  
  04-OU-
N/1-1 to 1-2
n.a. adult PBL n.a. most likely normal, maybe schizophrenia
{912} 2 cases
 
                 

  


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

 

NO REPORTS YET

 


References

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

 

NO REPORTS YET

 


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

 

 
  case no. case no. in sSMC database gender/
age at diagnosis
studied
material
GTG-banding result
grade of mosaicism
final FISH result of the sSMC FISH
methods
clinical symptoms reference  
  04-
WU-
sSMC/
1-1
04-
U-12
n.a./
n.a.
PBL n..a

mar(4)(p13q12)
hg19:44.45–57.26Mb
size of UPD unclear
no gene identified

aCGH most likely dymorphic and MR {828} 1 case  
                     

 


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  
  04-
WU-N-
imb/

1-1
female 13y PBL 46,X,der(X)t(X;4)
(p22.33;q24)
scoliosis, hepatomegaly, chronic lymphocytic thyroiditis, oliguria, anuria
iUPD - no gene identified
{848}
 
  04-
WU-N-
imb/

2-1
n.a. newborn PBL 46,XN,der(4)(pterp14:
:p15.2qter)
in aCGH dup:
26.38-39.75 Mb
UPD(4)seg: 4pter4p14
in aCGH: 0-26.38 Mb
n.a. {858} case 128  
                 

 


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  
  04-WU-
seg-q21.23/
1-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 4q21.23 to 4q22.1
no gene identified

clinically abnormal {947} case 43