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CASES WITH UNIPARENTAL DISOMY
- paternal UPD all -

 

- hydatidiform mole can be / is induced by complete paternal UPD {473; 474; 833};

examples see below

      
 

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  
  all-
WpU-N/
1-1 to 2
female postnatal PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; IQ at lower average range; resembling to Beckwith Wiedemann syndrome {383; 974 - refer. case 2}  
  all-
WpU-N/
1-3
female postnatal PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; IQ at lower average range; resembling to Beckwith Wiedemann syndrome {454}  
  all-
WpU-N/
1-4
female 4y PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann and upd(14)pat syndrome {603}  
  all-
WpU-N/
1-5
female adult PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann {604}  
  all-
WpU-N/
1-6
female 19y PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann {673}  
  all-
WpU-N/
1-7
female prenatal AF 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann {681}  
  all-
WpU-N/
1-8
female postnatal PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann {720}  
  all-
WpU-N/
1-8 to 1-11
female postnatal PBL 46,XX
molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy
multiple 'minor' malformations growth retardation; Beckwith Wiedemann - enhanced tumor risk detected for such cases
{751}  
  all-
WpU-N/
1-12
n.a. postnatal PBL 46,XX Beckwith Wiedemann and Wilms tumor
{759}  
  all-
WpU-N/
1-13
female ~1y PBL 46,XX Beckwith Wiedemann and hepatic mesenchymal hamartoma {760}  
  all-
WpU-N/
1-14
female newborn PBL n.a. multiple malformations typical for Beckwith Wiedemann {786}  
  all-
WpU-N/
1-15
female newborn PBL 46,XX multiple malformations typical for Beckwith Wiedemann {826}  
  all-
WpU-N/
1-16
female 16y PBL n.a.
UPD in skin 12%; in blodd 0%; in 4 tumors between 20 and 94%
BWS and recurent virilizing adrenocortical tumors {856}  
  all-
WpU-N/
1-17
female newborn PBL 46,XX BWS {894}  
  all-
WpU-N/
1-18 to 1-24
female postnatal PBL 46,XX BWS {935} 7 cases  
  all-
WpU-N/
2-1 to 2
female prenatal AF, placenta, PBL 46,XX
46,XX cells in placenta have in parts paternal isodisomy
placental mesenchymal dysplasia {469} cases 1 and 2  
  all-
WpU-N/
2-3
female prenatal AF, placenta, PBL 46,XX
46,XX cells in placenta have in parts paternal isodisomy
Complete hydatidiform mole {500} 1 case  
  all-
WpU-N/
2-4
female prenatal AF, placenta 46,XX in child
46,XX in placenta,cells have paternal isodisomy
Complete hydatidiform mole and normal live birth {467}  
  all-
WpU-N/
2-5
female prenatal AF, placenta 46,XX in child
46,XX in placenta,cells have paternal isodisomy
Complete hydatidiform mole and TOP {596}  
  all-
WpU-N/
2-6
female prenatal AF,
fibroblasts
46,XX in child
46,XX in placenta,cells have paternal isodisomy
Complete hydatidiform mole and stillbirth
{701}  
  all-
WpU-N/
2-7
male prenatal AF, placenta 46,XY in child
46,XY/46,XX in placenta,
46,XX cells have paternal isodisomy
Complete hydatidiform mole and normal live birth {468}  
  all-
WpU-N/
2-8
to 2-15
n.a. prenatal fetus n.a. Complete hydatidiformand aborted
{967} 8 cases  
  all-
WpU-N/
3-1 to 3-2
female prenatal AF, placenta, PBL 46,XX
46 cells in placenta have in parts paternal isodisomy
placental mesenchymal dysplasia {470} cases 1 and 2  
  all-
WpU-N/
4-1
n.a. prenatal/ abortion AF, tissue 46,XX/46,XY
46,XY cells have paternal isodisomy
spontaneous abortion {455}  
  all-
WpU-N/
4-2
n.a. postnatal PBL 46,XY/46,XX
46,XY cells have paternal isodisomy
n.a. {435}  
  all-
WpU-N/
4-3
female postnatal PBL 46,XX/46,XY
46,XX cells have paternal isodisomy
n.a. {384}  
  all-
WpU-N/
4-4 to 4-6
n.a. prenatal fibroblasts n.a.
paternal UPD
abortion {865}  
  all-
WpU-N/
5-1
male postnatal PBL 46,XY/?46,XX
46,XY cells have paternal isodisomy
BWS {935} case 21-027  
  all-
WpU-N/
6-1 to 6-4
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  
  all-
WpU-
imb/
1-1
female prenatal AF 47,XX,+13 Complete hydatidiform mole, TOP {560}  
  all-
WpU-
imb/
2-1
male prenatal AF 69,XXY/46,XY
46,XY
cells have paternal isodisomy
boy with BWS born {610} case 1  
  all-
WpU-
imb/
3-1
female prenatal AF
69,XXX/46,XX
46,XX cells have paternal isodisomy
spontaneous intrauterine death {610} case 2  
  all-
WpU-
imb/
4-1
female 6m PBL 47,XX,+21/46,XX cells 46,XX cells have paternal isodisomy Down syndrome, BWS, Wilmstumor {897 = 920}  
                 

 


References

pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET