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

CASES WITH UNIPARENTAL DISOMY
- maternal UPD 10 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  10-
OmU-
imb/
1-1
male prenatal chorion
placenta
47,XY,+10/46,XY normal male child {225}  
                 

 


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  
  10-
WmU-N/
1-1
male newborn PBL 46,XY familial hemophagocytic lymphohistiocytosis 2 (gene PRF1 in 10q22.1) {76}  
  10-
WmU-N/
2-1
male newborn PBL n.a. mitochondrial DNA depletion syndrome 7 (gene C10orf2 in 10q24.31) {770}  
  10-
WmU-N/
3-1
female newborn PBL n.a. different malformations; 6 candiadte genes identified - most likely involved gene HPS1 in 10q24.2 {950}  
                 

 


References

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

 

NO REPORTS YET

 


References

mat 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  
  10-
WmU-
sSMC/

1-1
10-
U-2
female/
prenatal
CH/AF/ fibroblasts 47,XX,+mar[15]/
46,XX[2]
AF: 17:3; Fibroblasts: 4:6
min(10)(:p12.31q11.1:) midi see below {16}  
  amniocentesis due to advanced maternal age; twin of patient was death at 13 weeks of gestation; no abnormalities in patient in ultrasound; pregnancy terminated in week 18; no abnormalities in autopsy  
                     

 


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  
  10-
WmU-
imb/
1-1
male newborn PBL, skin; other tissue 46,XX in PBL; 47,XX+10 in skin and other tissues between 19/30 and 30/30 cells severe dysmorphic features, died at 37 days of age {199}  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET