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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 4 -

 

      
 

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  
  04-
OmU-N/
1-1
female prenatal AF 46,XX no clinical signs at 1y; detected due AMA
{914}  
                 

 

 


References

mat UPD cases without clinical findings and balanced karyotype

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  04-
OmU-bal/
1-1
female adult PBL 46,XX,i(4)(p10),i(4)(q10) normal woman with repeated abortions {101}  
                 

 


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  
  04-
WmU-N/
1-1
female adult PBL n.a. detected during a screening for mood disorders or schizophrenia. Here major depressive disorder; gene n.d.
{265}  
  04-
WmU-N/
1-2
male 10y PBL n.a. mild MR, no DYS, slightspeechdelay; gene n.d., even though iUPD {891}  
  04-
WmU-N/
2-1
female >1y PBL n.a. Congenital afibrinogenaemia (gene FGA in 4q31.3)
{335}  
  04-
WmU-N/
3-1
male ~1y PBL n.a. Limb-girdle muscular dystrophies (gene SGCB in 4q12) {614}  
  04-
WmU-N/
4-1
male neonatal PBL n.a. Autosomal dominant polycystic kidney disease (gene PKD2 in 4q22.1) {650 = 893}  
  04-
WmU-N/
5-1
male 11y PBL 46,XY Severe hypodysfibrinogenaemia (gene FGB in 4q31.3)
{693}  
  04-
WmU-N/
6-1
male 2m PBL n.a. Abetalipoproteinemia (gene MTTP in 4q23)
{892} case 2  
  04-
WmU-N/
7-1
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  
  04-
WmU-

bal/
1-1
female 4y8m PBL 46,XX,inv(4)(pl5.2ql2)mat,inv(4)(pl5.2ql2)mat developmental and language developmental delay {407}  
                 

 


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  
  04-
WmU-
sSMC/
1-1
04-
U-1
male/
1m
PBL 48,XY,+21,+mar[28]/
47,XY,+21[7]
min(4)(:p12q11:) cenM
subcenM
partial maternal iso-UPD 4p16:
typical Down-syndrome {4} case 10
{5}
 
                     

 


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  
  04-
WmU-
imb/

1-1
female preantal chorion AF 47,XX,+4/46,XX in chorion
46,XX in AF
IUGR; fetal death at 30th week; no external malformations {241} case CPM4-1, {462}  
                 

 

 


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  
  04-WmU-
seg-pter/
1-1
see 04-WmU-sSMC/1-1 {4} case 10
{5}
 
  04-WmU-
seg-pter/
2-1
female postnatal PBL n.a.
-----
4pter to 4p15.1
Ellis-van Creveld syndrome (gene EVC in 4p16.2)
{354}  
  04-WmU-
seg-pter/
3-1
n.a. postnatal PBL n.a.
-----
4pter to 4p10
Wolfram syndrome (gene CISD2 in 4q24)
{410}  
  04-WmU-
seg-q11/
1-1
female 29y PBL 46,XX
-----
4q11~21 to 4qter
Abetalipoproteinemia (gene MTTP in 4q23) {391}  
  04-WmU-
seg-q31/
1-1
female 1y PBL n.a.
-----
4q31-32
bilateral cleft lip and palate, and no other noticeable abnormalities (gene PDGF-C in 4q32.1)
{715}