tl_files/tiny_templates/Bilder TL/Header-UPD.jpg

CASES WITH UNIPARENTAL DISOMY
- 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

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

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-
WpU-N/
1-1 to 1-3
n.a. newborn PBL n.a. pulmonary surfactant metabolism dysfunction 3 (gene ABCA3 in 16p13.3)
{490} patients 1 to 3  
  16-
WpU-N/
2-1 to 2-2
male and female
12 and 18y
PBL n.a.

Hereditary spastic paraplegias (gene FA2H in 16q23.1)

{884; 956} 2 cases  
  16-
WpU-N/
3-1
female 9y PBL n.a.

Fanconi anemia
(gene FANCA in 16q24.3)

{937} case 1  
                 

 


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  
  16-
WpU-
imb/
1-1
n.a. prenatal n.a. 47,+16/46 hydrops fetalis {399}  
  16-
WpU-
imb/
1-2
female prenatal AF 47,XX,+16/46,XX intrauterine growth retardation (IUGR); mild facial abnormities, VSD, ASD {93}  
  16-
WpU-
imb/
1-3
female prenatal AF, PBL 47,XX,+16/46,XX intrauterine growth retardation (IUGR); bilateral pes calcaneus, normal development at 13m {236}  
                 

 


References

pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET