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CASES WITH UNIPARENTAL DISOMY
- maternal 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

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  
  08-
OmU-N/
1-1
male adult PBL 46,XY detected during diabetes 2 gene hunt, history of early onset ileal cancer {229}  
                 

 


References

mat UPD cases without clinical findings and balanced karyotype

 

NO REPORTS YET

 


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

 

Acc. to {959} there might be an "imprinting syndrome" connected with KCNK9 in 8q24.3.

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  08-
WmU-N/
1-1
male 10y PBL 46,XY neuronal ceroid lipofuscinosis 8 (gene CLN8 in 8p23.3) {493}  
  08-
WmU-N/
2-1
n.a. 6m PBL n.a. Prominent forehead, plagiocephaly, hypertelorism, low set ears, short toe, inside ear prominent, pneumothorax (mixed h-i-UPD 8) {619} case 23  
  08-
WmU-N/
3-1
male 8y PBL n.a. Psychomotor retardation {896} case 2  
                 

 


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

 

 
  case no. case no. in sSMC database gender/
age at diagnosis
studied
material
GTG-banding result
grade of mosaicism
final FISH result of the sSMC FISH
methods
clinical symptoms reference  
  8-WmU-
sSMC/

1-1
08-
U-25
male/
6y
PBL 47,XY,+mar[60%]/
46,XY[40%]
min(8)(:p11.22q11.21:)
aCGH-data (hg19):
38,989,813–50,283,147
aCGH;
UPD-test
see below {960}  
  pregnancy with polyhydramnios, and dilatation of the pelvicalyceal system. After birth normal growth pattern with gastroesophageal (GE) reflux for the first few months. At 2 years delayed speech, hypermetropia in the left eye. He talked at 3 years with dysarthria probably secondary to hypotonia. ADHD. At 5 years he could follow the orders of three words, and his fine motor and gross motor skills were at 4 years. Hyperphagia, and at 6 years, weight 28 kg (75th centile), height 123 cm (90th centile), and head circumference is 55 cm (>2 SD above the mean); mild mental retardation  
                     

 


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  
  08-
WmU-
imb/
1-1
female newborn PBL 45,XX,-8,-8,+psu dic(8)(p23.3) Ataxic gait, growth delay, psychomotor delay {292}  
  08-
WmU-
imb/
2-1
female prenatal AF 45,XX,-8,-8,+psu dic(8;8)(p23.1;p23.3) TOP; autopsy revealed hypoplasia of teh cerbellar vermis and dilatation of tubules of the left kidney {420}  
  08-
WmU-
imb/
3-1
female newborn PBL 47,XY,+del(8)(q21.1)[8%]/46,XY[92%] Nijmegen breakage syndrome (gene NBN in 8q21.3)
{364}  
                 

 


References

mat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET