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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 7 -

 

      
 

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  
  07-
WpU-N/
1-1
male? n.a. PBL n.a. cystic fibrosis and primary ciliary dyskinesia with situs inversus totalis (gene CFTR in 7q31.2)
{80; 168}  
  07-
WpU-N/
1-2
male 33y PBL n.a. cystic fibrosis mutation leading to congenital bilateral absence of the vas deferens (gene CFTR in 7q31.2)
{505}  
  07-
WpU-N/
1-3
female postnatal PBL n.a. cystic fibrosis (gene CFTR in 7q31.2)
{246}  
  07-
WpU-N/
2-1
male postnatal PBL n.a. cystic fibrosis, overweight, developmental delay (gene CFTR in 7q31.2)
{166}  
  07-
WpU-N/
2-2
male postnatal PBL 46,XY cystic fibrosis, developmental delay (gene CFTR in 7q31.2)
{170} case 17  
  07-
WpU-N/
3-1
female 23y PBL n.a. congenital chloride diarrhea Finnish type (gene SLC26A3 in 7q31.1)
{114; 118}  
  07-
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

 

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

1-1
male newborn PBL 45,XY,psu dic(7;7)(p22;p22) lethal osteosclerotic bone dysplasia, who died 2 h after birth (gene FAM20C in 7p22.3) {502}  
                 

 


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  
  07-WpU-
seg-pter/
1-1
female prenatal AF; PBL 46,XX,i(7)(p10),i(7)(q10)
-----
7pter to 7p10
growth retardation; SRS like
{42}  
  07-WpU-
seg-pter/
1-2
male newborn PBL 46,XY,i(7)(p10),i(7)(q10)
-----
7pter to 7p10
growth retardation; SRS like
{415}