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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 9 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  09-OU-
seg-pter/
1-1
n.a. adult PBL n.a.; acc. to array no imbalance in PBL
-----
9pter to 9p13.1 (in 83% of PBL)
normal adult with bladder cancer {545} case 586  
  09-OU-
seg-pter/
1-2
n.a. adult PBL n.a. acc. to array partial trisomy 9 and 22 in 72-74% of PBL
-----
9pter to 9p13.1
normal adult with bladder cancer {545} case 1185  
                 

 


References

mat or pat UPD cases with clinical findings or unclear correlation and normal karyotyp

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  09-
WU-N/

1-1 to 1-2
n.a. n.a. PBL n.a. most likely dymorphic and MR
size of UPD unclear
no gene identified

{828} 2 cases  
  09-
WU-N/

2-1
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

 

NO REPORTS YET

 


References

mat or 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  
  09-
WU-
imb/
1-1
female postnatal PBL 47,XX,+9/46,XX n.a.; blood group system mixed
{778}  
  09-
WU-
imb/
1-2
n.a. n.a. PBL

47,XN,+9[11%]/
46,XN[89%]

most likely dymorphic and MR
size of UPD unclear
no gene identified
{828} 1 case  
  09-
WU-
imb/
2-1
female 5y PBL

n.a.
acc. to aCGH triplication of 9q21.11-q21.33

citrullinemia (gene ASS1 in 9q34.11) {828} 1 case  
  09-
WU-
imb/
3-1
male newborn PBL

n.a. acc. to aCGH copy number gains at
Xq28 and 10q26.11-
q26.12, copy number
loss at 16q23.1

3-methylglutaconic
aciduria, type I (gene AUH in 9q22.31)
{828} 1 case  
                 

 


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  
  09-WU-
seg-p13.3/
1-1
n.a. n.a. PBL n.a.
-----
9p13.3 (unclear if mat or pat origin)
classical galactosaemia (gene GALT in 9p13.3)
{365}