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

CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 6 -

 

      
 

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  
  06-
OU-seg-
q27/

1-1
female adult PBL

mos 46,XX[~50%]/
46,XX,del(6)(q27)[~50%]

----------------
6q27-6qter

normal - child with deletion in 100% of cells with clinical signs and symptoms
{883}  
                 

 


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  
  06-
WU-N/
1-1
n.a. newborn PBL n.a. see below {619} case 4  
  IUGR, shortened long bones, left club foot,wide toe space left side, micrognathia, mild edema of the posterior skull and neck, small stomach possible hypotelorism, lemon shaped head and achogenic area posterior to the heart. (iso UPD 6 - no gene identified)  
                 

 


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  
  06-
WU-N
imb/

1-1
male prenatal

AF

46,XY.arr 1p36.33p36.32
(849,466-4,090,472)x2~3
sonographic abnormalities
{931}  
                 

  


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  
  06-WU-
seg-p21.1/
1-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 6p21.1 to 6p12.3
no gene identified

clinically abnormal {947} case 20  
  06-WU-
seg-q14/
1-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 6q14 to 6q15
no gene identified

clinically abnormal {947} case 101
 
  06-WU-
seg-q21/
1-1
n.a. postnatal PBL

n.a.
-----
i(UPD) in 6q21 to 6q22.31
no gene identified

clinically abnormal {947} case 87
 
  06-WU-
seg-q26/
1-1
female 40y PBL 46,XX
-----
6q26 to 6qter
spinocerebellar ataxia type 17 (gene TPB in 6q27) {446}