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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 12 -

 

      
 

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

 

 
  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  
  12-
OmU-
sSMC/
1-1
12-O-p11/
1-1
female/
prenatal
AF 47,XX,+mar[16]/
46,XX[14]
min(12)(:p11→q11:) cenM;
 wcp and pcps
see below {17}
{18} case 11
 
  Amniocentesis due to advanced  maternal age; born after 39 weeks of gestation; Birth weight 2850g, length 46cm, head circumference 34cm, all around the 50th centile. Apgar score 9 , 10, 10. No congenital anomalies or dysmorphic features were noted. At age of six weeks, clinical examination indicated normal somatic and psychomotor development.  
                     

 


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  
  12-
WmU-N/
1-1
female 3y PBL n.a. von Willebrand disease type 1 (gene VWF in 12p13.31) {630}  
  12-
WmU-N/
2-1
female 2 PBL n.a. hereditary 1,25-hydroxyvitamin D-resistant rickets (gene VDR in 12q13.11)
{904}  
                 

 


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  
  12-
WmU-
sSMC/

1-1
12-Wpks-159 female/
prenatal
AF 47,XX,+12/
47,XX,+i(12)(p10)/
46,XX
n.a. Pallister Killian syndrome expected, TOP {522}  
                     

 


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  
  12-
WmU-
imb/
1-1
male prenatal AF, 'tissue' 47,XY,+12[4]/46,XY[19] abnormal ultrasound; multiple malformations in newborn; died after 1 hour {107} case B  
  12-
WmU-
imb/
1-2
female prenatal AF, PBL, CH 47,XX,+12[2]/46,XX[45]
biparental inheritance in AF; mat UPD in CH
advanced maternal age; sonographic abnormalitiesTOP {107} case D  
  12-
WmU-
imb/
1-3
n.a. prenatal CH 47,+12/46 n.a. {619} case 25  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET