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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 1 -

 

      
 

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  
  01-
OU-seg-
pter/

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  
  01-
OU-seg-
q22/

1-1
male adult
>50 y
PBL

46,XY
-----------------
1q22 to 1qter

normal male with 6 grandchildren {506} case 2  
                 

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  
  01-
WU-N/

1-1
n.a. 7y PBL n.a. mild ASD and hyperactivity (iso-UPD 1 - no gene identifed) {619} case 1  
  01-
WU-N/

2-1
n.a. n.a. PBL n.a. Kabuki syndrome
(gene RAP1A in 1p13.2)
{885}  
  01-
WU-N/

3-1
male newborn PBL n.a.

3-beta hydroxysteroid dehydrogenase type II related congenital adrenal hyperplasia (gene HSD3B29 in 1p12)

{968}  
  01-
WU-N/

4-1
male 12y PBL n.a.

Congenital insensitivity to pain and anhidrosis (CIPA) = (HSAN IV)
(gene NTRK1 in 1q23.1)

{989}  
                 

 


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  
  01-
WU-
sSMC/
1-1
01-
U-15
n.a./
n.a.
PBL n..a mar(1)
acc. to aCGH most likely heterochromatic or low mosaic
size of UPD unclear
no gene identified

aCGH most likely dymorphic and MR {828} 1 case  
                     

 


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  
  01-
WU-N-
imb/

1-1
female 28y PBL 46,XN,der(1)(pterp36.13:
:p36.12p36.11:
:p36.12qter)
in aCGH del:
17.16-20.41Mb
in aCGH dup:
20.42-25.35 Mb
UPD(1)seg: 1pter1p36.13
in aCGH: 0-17.16 Mb
DD; MR; dysmorphic features; epilepsy {854}  
  01-
WU-N-
imb/

2-1
n.a 7y PBL 46,XN,der(1)(pterp36.12:
:p36.13qter)
in aCGH dup:
19.48-23.04 Mb
UPD(1)seg: 1pter1p36.13
in aCGH: 0-19.48 Mb
Autism spectrum disorder
{858} case 124
 
  01-
WU-N-
imb/

3-1
n.a. 5y PBL 46,XN,der(1)(pterp36.21:
:p36.22qter)
in aCGH dup:
11.70-12.02 Mb
UPD(1)seg: 1pter1p36.22
in aCGH: 0-11.70 Mb
Setleis syndrome {858} case 125  
  01-
WU-N
imb/

4-1
n.a. 1y

n.a.

46,XN,der(1)(pterp36.32:
:p36.33qter)
in aCGH dup:
1.50-3.59 Mb
UPD(1)seg: 1pter→1p36.33
in aCGH: 0-1.50 Mb
DD {858} case 126  
                 

 


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  
  01-
WU-seg-
q22/

1-1
female newborn PBL

46,XX
---------------
1q22 to 1qter

Hutchinson-Gilford progeria syndrome (gene LMNA in 1q22)
{403} case 2