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CASES WITH UNIPARENTAL DISOMY
- maternal UPD all -

 

- ovarial teratoma can be/ is induced by complete maternal UPD {473; 474};

as tumor is not in the focus of this site corresponding reports are not collected

 

      
 

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 UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

mat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

mat 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  
  all-
WmU-N/

1-1 to 1-4
n.a. n.a. n.a. n.a. n.a. {982}  
                 

  


References

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  all-
WmU-
bal/

1-1
male
(phenotype!)
postnatal PBL 46,XX
46,XX cells have maternal UPD
Silver Russel syndrome {761}  
                 

 


References

mat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

mat 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  
  all-
WmU-
imb/
1-1
female 2y PBL chi 45,X/46,XX
(between 18% and 84% cells with UPD of all chr
growth failure {564}  
  all-
WmU-
imb/
2-1
male
(phenotype!)
postnatal PBL 46,XX/47,XXY
46,XX cells have maternal UPD
Silver Russel syndrome {216} case P11  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET