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CASES WITH UNIPARENTAL DISOMY
- unclear if maternal or paternal UPD 16 -

 

      
 

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 or pat UPD cases without clinical findings and normal karyotype

 

NO REPORTS YET

 


References

mat or pat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


References

mat or pat UPD cases without clinical findings and sSMC

 

NO REPORTS YET

 


References

mat or pat UPD cases without clinical findings and other imbalances

 

NO REPORTS YET

 


References

mat or pat segmental UPD cases without clinical findings

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  16-OU-
seg-pter/
1-1
n.a. adult PBL n.a.; acc. to array no imbalance in PBL
-----
16pter to 16p13.12 (in 25% of PBL)
normal adult with bladder cancer {545} case 1205  
                 

 


References

mat or pat UPD cases with clinical findings or unclear correlation and normal karyotype

for thoughts about UPD(16) see Ref 993

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  16-
WU-N/

1-1
female newborn PBL n.a.
Bardet-Biedl syndrome 2 (gene BBS2 in 16q13) {828} 1 case  
  16-
WU-N/

2-1 to 2-2
n.a. n.a. PBL n.a. most likely dymorphic and MR
size of UPD unclear
no gene identified
{828} 2 cases  
                 

 


References

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

 

NO REPORTS YET

 


References

mat or pat UPD cases with clinical findings or unclear correlation and sSMC

 

NO REPORTS YET

 


References

mat or 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  
  14-
WU-N-
imb/

1-1 to 1-3
n.a. prenatal chorion mos 47,+16/46 n.a. {902}
3 cases
 
                 

 

 


References

mat or 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  
  16-WU-
seg-pter/
1-1
n.a. 2m PBL 46,XN
-----
16pter to 16p11.2 (in 32% of PBL)
neonatal liver impairment, heart murmor {652} case 11  
  16-WU-
seg-pter/
2-1
n.a. prenatal fibroblasts

n.a.
------
16pter to 16p12.3 and
16q21 to 16q23

spontaneous abortion {817} 1 case