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CASES WITH UNIPARENTAL DISOMY
- paternal UPD X -

 

- skewed X-chromosome inactivation might be considered as kind of UPD - see Ref {244; 839}

- in 25% of Turner syndrome patients remaining X-chromosome is of paternal origin {443} leading to more social adaptation {526}

 

 

      
 

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

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  
  0X-OpU-
N/1-1
female 28y PBL 46,XX
pat transmission of both X
recurrent miscarriages (iso-UPD X) {619} case 16  
                 

 


References

pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

pat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

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  
  0X-
WpU-N/
1-1
male n.a. n.a. 46,XY
pat transmission of X and Y
hemophilia A (gene F8 in Xq28)
{396}  
  0X-
WpU-N/
2-1
female n.a. n.a. 46,XX
pat transmission of both X
Mild MR, short stature, hypotonia - no gene identified
{411} 1 case  
  0X-
WpU-N/
3-1
male 19y PBL 46,XY
pat transmission of X and Y
ectodermal dysplasia, hypodontia (gene ED1 in Xq13.1) {518}  
  0X-
WpU-N/
4-1 to 4-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

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

 

NO REPORTS YET

 


References

pat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

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  
  0X-
WpU-
imb/
1-1
to 4
male n.a. n.a. 48,XXYY n.a. {250} 4 cases  
  0X-
WpU-
imb/
1-5
to 8
male n.a. n.a. 48,XXYY n.a. {537-538} 4 cases  
  0X-
WpU-
imb/
2-1
male n.a. n.a. 48,XXXY n.a. {538} 1 case  
                 

 


References

pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET