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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 8 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  08-WpU-
N/1-1
female prenatal and newborn PBL 46,XX lipoprotein lipase deficiency (gene LPL in 8p21.3)
{64}  
  08-WpU-
N/2-1
n.a. 7y PBL n.a. Asperger syndrome; attention deficit disorder (iso-UPD 8 - unclear if associated wirth any gene on chromosome 8) {619} case 9  
  08-WpU-
N/3-1
male postnatal PBL n.a. Congenital adrenal hyperplasia (gene CYP11B1 in 8q24.3)
{789}  
  08-WpU-
N/4-1
female 12y PBL n.a. spinal muscular atrophy with progressive myoclonic
epilepsy (gene ASAH1 in 8p22)
{803; 862}  
  08-WpU-
N/5-1
male 6y PBL n.a. Hereditary motor and sensory neuropathy-type Lom (HMSNL), CMT4D (gene NDRG1 in 8q24.22)
{976} case 10  
  08-WpU-
N/6-1 to 6-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


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  
  08-
WpU-
imb/
1-1
n.a. n.a. PBL n.a.
aCGH: del(15)(q13.3q14) de novo
autism, learning disability (no gene identified) - most likely due to del(15) {652}
case 19
 
                 

  


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  
  08-WpU-seg-p23.3/
1-1
n.a. newborn PBL 46,XY,dup(8)(pter→p23.3: :p12→p23.3: :p23.3→qter)
-----
8p23.3 to 8p12
motor and language delay, dysmorphic facial features, mild hypotonia {491}  
  08-WpU-seg-q24.3/
1-1
male newborn PBL n.a.
-----
small segment in 8q24.3
epidermolysis bullosa simplex associated with pyloric atresia (gene PLEC1 in 8q24.3) {508} case 2