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

CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 7 -

 

      
 

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  
  07-OU-
seg-
q11.2/
1-1
n.a. adult PBL n.a.; acc. to array no imbalance in PBL
-----
7q11.2 to 7q21.3 (29% of cells) and 7q21.3 to 7qter (18% of cells)
normal adult with bladder cancer {545} case 1105  
  07-OU-
seg-
q11.22/
1-1
n.a. adult PBL n.a. acc. to array duplication of 1p35.2-1p32.2 in 74% of PBL
-----
1pter to 1p35.2 (55% of cells) and 7q11.22 to 7qter (48% of cells)
normal control {545} case 468  
                 

 


References

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

 

NO REPORTS YET

 


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

 

 
  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  
  07-
U-19
07-
U-19
female/
6y
PBL de novo 47,XX,+mar[?100%] r(7)(::p11.2q11.23::)
aCGH: 70.42-73.21 Mb
iso-UPD 7 of normal chrs. 7
macrocephaly, DD, self injury behaviour {635}  
                     

 


References

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

 

NO REPORTS YET

 


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  
  07-
WU-seg-
q21.3/

1-1
n.a. 5y PBL

n.a.
---------------
7q21.3 (size 1.098 Mb)

DD, autism, hyperactivity
{924}
case 1
 
  07-
WU-seg-
q21.3/

2-1
n.a. 11y PBL

n.a.
---------------
7q21.3 (size 1.062 Mb)

DD, intellectual disability {924}
case 2
 
  07-
WU-seg-
q31.33-32.3/

1-1
n.a. 2y PBL

n.a.
---------------
7q31.33-32.3 (size 4.257 Mb)

DD, intellectual disability, microcephaly, seizures, hypotonia, DYS {924}
case 3
 
  07-
WU-seg-
q31.33-32.3/

2-1
n.a. 2.5y PBL

n.a.
---------------
7q31.33-32.3 (size 1.089 Mb)

DD, intellectual disability, microcephaly, seizures, hypotonia, DYS  {924}
case 4
 
  07-
WU-seg-
q32.2/

1-1
n.a. 3y PBL

n.a.
---------------
7q32.2 (size 1.033 Mb)

DD, intellectual disability, DYS     {924}
case 5
 
  07-
WU-seg-
q32.2/

2-1
n.a. 15y PBL

n.a.
---------------
7q32.2 (size 1.020 Mb)

DD, intellectual disability, heart defect   {924}
case 6