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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 21 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  21-OmU-
N/1-1
male postnatal PBL n.a. none - studied due to paternity testing {255}  
  21-OmU-
N/1-2 to 1-3
n.a. prenatal n.a. 46 abnormal first trimester test
(no follow-up data)
{755} 2 cases  
                 

 


References

mat UPD cases without clinical findings and balanced karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  21-OmU-
bal/1-1
male postnatal PBL 45,XY,der(21;21)(q10;q10)mat none - studied due to repeated abortions in mother {295}  
  21-OmU-
bal/1-2
male prenatal AF 45,XY,der(21;21)(q10;q10)dn none - detected during prenatal screening; normal child born; normal at 1 y {311}  
                 

 


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  
  21-
WmU-N/
1-1
n.a. early pregnancy fetal tissue 46,XN early embryonic failure {207}  
  21-
WmU-N/
1-2
n.a. prenatal AF 46,XN abnormal sonography {899} 1 case  
  21-
WmU-N/
2-1
male 15 m PBL 46,XY normal at birth; developmental delay from 15 m of age; iso UPD 21q21.1 to 21q22.12, no gene identified
{547}  
  21-
WmU-N/
3-1
n.a. 5y PBL n.a. developmental delay; congenital abnormalities of the nervous system, no gene identified
{619} case 35  
  21-
WmU-N/
4-1
female postnatal PBL n.a. popliteal pterygium syndrome (gene RIPK4 in 21q22.3) {876} case PPS2  
                 

 


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  
  21-
WmU-
imb/
1-1
female newborn PBL
fibroblasts
46,XX in PBL after ~1year
initially and in fibroblasts: 46,XX,del(21)/46,XX,-21
growth failure, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation {81} case 2
{290} case MP04
 
  21-
WmU-
imb/
2-1
n.a. newborn PBL 47,+21/46 Down syndrome {120}  
  21-
WmU-
imb/
2-2
female prenatal AF, CH 46,XX
in placenta 47,XX,+21
no abnormalities; nonetheless parents decided for TOP {732}  
  21-
WmU-
imb/
3-1
n.a. early pregnancy fetal tissue 48,+7,+9/46 early embryonic failure {207}  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET