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

CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 15 -

 

      
 

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  
  15-
WU-N/
1-1
n.a. prenatal AF 46,XN abnormal sonograohy
{899} 1 case
 
  15-
WU-N/
2-1
n.a. postnatal PBL n.a. abnormal {947} case 227a  
                 

 

 


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 imbalance

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  15-
WU-N-
imb/

1-1
n.a. prenatal free fetal DNA
mos 47,+15/46
n.a. {878; 887}  
  15-
WU-N-
imb/

1-2
n.a. prenatal chorion mos 47,+15/46 n.a. {902} 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  
  15-WU-
seg/
1-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 6 MB
severe global DD {652} case 21  
  15-WU-
seg/
2-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 30 MB
hypotonia in newborn {652} case 22  
  15-WU-
seg/
3-1
n.a. n.a. PBL n.a.
----
exact localization not reported - only size of 34 MB
?PWS {652} case 23  
  15-WU-
seg-q11.2/
1-1
n.a. ~3y PBL

n.a.
---------------
15q11.2 (size 1.068 Mb)

intellectual diability, DYS, feeding problems, DD  {924}
case 10
 
  15-WU-
seg-q11.2/
2-1
n.a. 4y PBL

n.a.
---------------
15q11.2 (size  1.158 Mb)

 intellectual diability, DYS, hyperactive, DYS, seizures  {924}
case 11
 
  15-WU-
seg-q11.2/
3-1
n.a. 5y PBL n.a.
---------------
15q11.2 (size  1.002 Mb)
 
intellectual diability, DYS, hyperactive, DYS, seizures {924}
case 12
 
  15-WU-
seg-q11.2/
4-1
n.a. 5y PBL n.a.
---------------
15q11.2 (size  1.067 Mb)
 
 DD, autism, DYS {924}
case 13
 
  15-WU-
seg-q11.2/
5-1
n.a. 18y PBL n.a.
---------------
15q11.2 (size  1.224 Mb)
 
intellectual diability, others {924}
case 14
 
  15-WU-
seg-q21.3/
1-1
n.a. n.a PBL n.a.
-----
15q21.3 to q24.1
(only iUPD of this region)
no PWS, or ASmost likely dymorphic and MR
no gene identified
{828} 1 case