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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 8 -

 

      
 

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

 

NO REPORTS YET

 


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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  08-
WU-N/
1-1
n.a. 2m PBL n.a. failure to thrive (iso-UPD 8) {619} case 10  
  08-
WU-N/
2-1
male 3y PBL n.a. primary autosomal recessive microcephaly (gene MCPH1 in 8p23.2) {828} 1 case  
  08-
WU-N/
3-1 to 3-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


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

 

c
  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  
  8-
WmU-
sSMC/

1-1
08-U-16 female/
postnatal
PBL 47,XX,+mar[20] mar(8)(:p11.21p11.1:)
array: 40.69.-43.29 MB
array-CGH
segm. UPD 8q12.1 to 8q23.1
DD, short stature {691}  
  8-
WmU-
sSMC/
2-1
08-U-17 female/
prenatal
AF 47,XX,+mar[20] mar(8)(:p12q12:)

aCGH:
37.12-51.48 MB

aCGH abnormal biochemistry, TOP; holoprosen-
cephaly
{730} case 9  
                     

 


References

mat or pat UPD cases with clinical findings or unclear correlation and other imbalance

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  08-
WU-N-
imb/

1-1
n.a n.a. tissue 46,XN,der(8)(pterp11.21:
:p12qter)
in aCGH dup:
31.31-42.33 Mb
UPD(8)seg: 8pter8p11.21
in aCGH: 0-31.31 Mb
cystic hygroma
{858} case 129
 
                 

 


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  
  08-
WU-seg-
q23.1/

1-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 8q23.1 to 8q22.31
no gene identified

clinically abnormal {947} case 85
 
  08-
WU-seg-
q24.21/

1-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 8q24.21 to 8q24.22
no gene identified

clinically abnormal {947} case 228