tl_files/tiny_templates/Bilder TL/Header-UPD.jpg

CASES WITH UNIPARENTAL DISOMY
- 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

pat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and balanced karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-OpU-
bal/1-1
female prenatal PBL 45,XX,der(13;13)(q10;q10)dn normal child born {96} case 1, {97}  
  13-OpU-
bal/1-2
female adult PBL 45,XX,der(13;13)(p11.2;p11.2)pat normal female {327}  
  13-OpU-
bal/1-3
male prenatal AF, PBL 45,XY,der(13;13)(q10;q10)de novo normal male {416}  
                 

 


References

pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and other imbalances

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  13-
OpU-imb/
1-1
female prenatal AF, CH CH: 46,XX,+13,der(13;13)(q10;q10)
AF: 45,XX,der(13;13)(q10;q10)
none, apart from length <10th centile {332}  
                 

 


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  
  13-
WpU-N/
1-1
male 4y PBL n.a. autosomal dominant 3A deafness (gene GJB2 in 13q12.11)
{390}  
  13-
WpU-N/
2-1
female 35y PBL n.a. Spastic ataxia, Charlevoix-Saguenay type (gene SACS in 13q12.12) {557}  
  13-
WpU-N/
3-1
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

pat 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  
  13-
WpU-
bal/
1-1
female postnatal PBL 45,XX,der(13;13)(q10;q10) Childhood-onset schizophrenia, ADHD, and motor tic disorder {658}  
                 

 


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  
  13-WpU-
imb/1-1
n.a. prenatal AF 46,+13,der(13;13)(q10;q10)pat[2] n.a. {852}  
                 

 


References

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  
  13-WpU-
seg-q14.2/
1-1
male n.a. PBL n.a.
-----
13q14.2 to 13q34
Wilsons disease (gene ATP7B in 13q14.3)
{736} 1 case  
  13-WpU-
seg-q14.3/
1-1
male 6.5y PBL 45,XY,der(13;15)(q10;q10)
-----
besides pat UPD 15 also pat UPD 13q14.3
Angelman syndrome not related to UPD(13)pat
{357}