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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 5 -

 

      
 

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

 

NO REPORTS YET

 


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  
  05-
WmU-N/
1-1
female 3y PBL n.a. Netherton syndrome (gene SPINK5 in 5q32)
{444} patient 2  
  05-
WmU-N/
1-2
female 10y PBL n.a. Netherton syndrome (gene SPINK5 in 5q32) {849}  
  05-
WmU-N/
2-1
female 12y PBL 46,XX Stüve-Wiedemann syndrome (gene LIFR in 5p13.1) {850}  
  05-
WmU-N/
3-1
male 4y PBL n.a. Congenital sodium diarrhea = CSD (gene SLC9A3 in 5p15.33) {922}  
  05-
WmU-N/
4-1
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

 

 
  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  
  05-
WmU-
sSMC/
1-1
05-O-
p13.1/
1-2
female/
prenatal
AF 47,XX,+mar[7]/46,XX[43] min(5)(:p13.1→q11.1:) cenM;
subcenM
see below {0} provided by Dr. Schulze, Hannover, Germany  
  no sonographic signs; advanced maternal age, child born; no abnormalities reported; slight hip dislocation  
                     

 


References

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

 

NO REPORTS YET

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET