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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 3 -

 

      
 

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

 

NO REPORTS YET

 


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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  03-WmU-
N/
1-1
male newborn PBL n.a. Epidermolysis bulbosa (gene COL7A1 in 3p21.31)
{167}  
  03-WmU-
N/
1-2
n.a. newborn PBL n.a. Epidermolysis bulbosa (gene COL7A1 in 3p21.31)
{504}  
  03-WmU-
N/
2-1
female 5 weeks PBL n.a. Fanconi-Bickel syndrome (gene GLUT2 in 3q26.2 {213}  
  03-WmU-
N/
3-1
female newborn PBL 46,XX Congenital disorder of glycosylation type Id (gene ALG3 in 3q27.1) {321}  
  03-WmU-
N/
4-1
n.a. postnatal/
child
PBL n.a. Autosomal recessive GM1 gangliosidosis (gene GLB1 in 3p22.3)
{795}  
  03-WmU-
N/
5-1
female 4m PBL n.a.
mosaic UPD in 75% of the cells
moderate ID, epilepsy and autistic behaviour; Rett.-syndrome like regression - possible responsible SRGAP3-gene in 3p25.3
{919} case 7  
  03-WmU-
N/
6-1
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  03-
WmU-bal/

1-1
female postnatal PBL 46,XX,inv(3)(p12q24)x2 mat mental retardation {476}  
                 

 


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  
  03-
WmU-
sSMC/
1-1
03-
U-8
female/
prenatal
CH, AF 47,XX,+mar[100%] min(3)(:p12.2q10:)* BAC probes see below {3}  
  twin pregnancy; in chorion (short term culture) in twin 2 a trisomy 3 (100%) was detected; in long term culture in 100% of cells had sSMC; twin 2 significantly shorter than twin 1; sSMC also found in amnion cells; selective fetocide was done, however, after 3 weeks death delivery of both twins.  
                     

 


References

mat UPD cases with clinical findings or unclear correlation and other imbalances

 

NO REPORTS YET

 


References

mat 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  
  03-WU-
seg/
1-1
n.a. n.a. PBL n.a.
-----
exact localization not reported - only size of 17 MB
Global developmental delay, normal development, non-dysmorphic, gene n.d.
{652} case 15