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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 4 -

 

      
 

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

pat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

pat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

pat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

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  
  O4-
WpU-N/
1-1
male newborn PBL 46,XY prenatal: polyhydramnions, renal anomalies; postnatal: renal anomalies, dysmorphic face, psychomotor development - gene not identifed
{573} case 29  
  O4-
WpU-N/
2-1
female newborn PBL n.a. mild variant phenotype of maple syrup urine disease (gene PPM1K in 4q22.1)
{714}  
  O4-
WpU-N/
3-1
female 4 years PBL 46,XX autism spectrum disorder, has a Chiari I malformation/ spinal dimple
(gene FAT4 in 4q28.1 - most likely not disease causing)
{0} provided by family  
  O4-
WpU-N/
4-1 to 4-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

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

 

NO REPORTS YET

 


References

pat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

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

 

NO REPORTS YET

 


References

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  
  04-
WpU-
seg-
pter/

1-1
n.a. postnatal PBL n.a.
-----
4p16
Wolfram syndrome 1
(gene WFS1 in 4p16.1)
hUPD plus new mutation
{719}