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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 17 -

 

      
 

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 UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

mat UPD cases without clinical findings and other imbalances

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  17-
OmU-
imb/
1-1
female prenatal AF, PBL 47,XX,+17[~1%]/46,XX[~99%] normal girl at birth and at 2 years of age {189} case 2  
                 

 


References

mat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

mat 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  
  17-
WmU-N/
1-1
female 2.5 y PBL 46,XX nephrotic cystinosis (gene CTNS in 17p13.2)
{245}  
  17-
WmU-N/
2-1
n.a. postnatal PBL n.a. Seizures, bruxism, global developmental delay, delayed speech and language development, delayed gross motor development, renal magnesium wasting, hypomagnesemia; gene not identified
{763} case 258308  
  17-
WmU-N/
3-1
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

mat UPD cases with clinical findings or unclear correlation and balanced karyotype

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

mat 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  
  17-
WU-N-
imb/

1-1
n.a 13y PBL 46,XN,der(17)(pterp13.2:
:p13.3qter)
in aCGH dup:
1.97-5.75 Mb
UPD(17)seg: 17pter17p13.3
in aCGH: 0-1.97 Mb
n.a. {858} case 131
 
  17-
WU-N-
imb/

2-1
n.a. 2.5y PBL 46,XN,der(17)(pterq25.3:
:q25.3qter)
in aCGH dup:
75.90-78.97 Mb
UPD(17)seg: 17q25.317qter
in aCGH: 78.97-81.20 Mb
DD {858} case 132  
                 

 


References

mat 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  
  17-WmU-
seg-q25/
1-1
male n.a. PBL 46,XY
------
17q25
severe MR, macrostomia, thick upper lip, hypertelorism, epicanthus, aggressive behavior; no gene detected
{411} 1 case