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CASES WITH UNIPARENTAL DISOMY
- paternal 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

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  05-OpU-
imb/1-1
male prenatal chorion, AF; PBL
47,XY,+5 in chorion
46,XY in AF and PBL
IUGR; normal at birth
iUPD(5)pat after trisomic rescue!
At 1 years, central hypotonia, lack of coordination, torticollis, and delay in motor skills
{0} provided by the family
 
                 

  


References

pat segmental UPD cases without clinical findings

 

NO REPORTS YET

 


References

pat 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-
WpU-N/
1-1
male 2y PBL 46,XY spinal muscular atrophy 1 (gene SMN in 5q13.2)
{400}  
  05-
WpU-N/
2-1
female prenatal AF/PBL 46,XX Autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) (gene SLC26A2 in 5q32)
{793}  
  05-
WpU-N/
3-1
male 1y PBL 46,XY Delayed growth, macrocrania, hypospadias, psychomotor developmental delay (no gene identified)
{896} 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

 

NO REPORTS YET

 


References

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  
  05-WpU-seg-p15.31/
1-1
female n.a. PBL n.a.
-----
5p15.31 to 5p15.31
cbl E type homocystinuria-megaloblastic anemia (gene MTRR in 5p15.31) {651} case 2  
  05-WpU-seg-q11.2/
1-1
male 2y PBÖ 46,XY,del(5)(q11.1q11.2)
-----
5q11.2 to qter
MR, autism, scoliosis
(no gene identified)
{895} {896} case 10
 
  05-WpU-seg-q32/
1-1
female 9y PBL n.a.
-----
5q32 to 5qter
schizophrenia 1 (gene SCZD1 in 5q32-5qter)
{445}