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CASES WITH UNIPARENTAL DISOMY
- maternal UPD 22 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  22-OmU-
bal/1-1
female adult PBL 45,XX,der(22;22)(q10;q10)mat none apart from repeated abortions {235}  
  22-OmU-
bal/1-2
female n.a. PBL 45,XX,der(22;22)(q10;q10)mat none apart from repeated abortions in mother {284}  
  22-OmU-
bal/1-3
female postnatal PBL 45,XX,der(22;22)(q10;q10) none {304} case 5  
  22-OmU-
bal/1-4
male 25y PBL 45,XX,der(22;22)(q10;q10)dn none; repeated abortions in female partner {318}  
  22-OmU-
bal/1-5
male postnatal PBL 45,XY,der(22;22)(q10;q10)dn none; repeated abortions in female partner {796}  
                 

 


References

mat UPD cases without clinical findings 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  
  22-
OmU-
sSMC/
1-1
22-O-
q11/
2-1
female/
1y
PBL 47,XX,+mar[11]/
46,XX[39]
min(22)(:p11.1q11:) cenM see below {33}  
  child born without any clinical signs; in placenta and umbilical cord material mosaic of 46,XX/47,XX+22/47,XX+mar  
                     

 


References

mat UPD cases without clinical findings and other imbalances

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  22-OmU-
imb/1-1
female pre- and postnatal chorion, AF, PBL 47,XX,+22 in chorion
46,XX in AF and PBL
normal at birth {544}  
                 

 


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  
  22-WmU-
N/1-1
n.a. prenatal AF n.a. malformations; no gene identified
{483}  
  22-WmU-
N/2-1
male 11y PBL n.a. recessive congenital methemoglobinemia (gene CYB5R3 in 22q13.2)
{688}  
  22-WmU-
N/3-1
n.a. postnatal PBL n.a. infantile neuroaxonal dystrophy 1 (gene PLA2G6 in 22q13.1) {692}  
  22-WmU-
N/3-2
female postnatal PBL n.a. infantile neuroaxonal dystrophy 1 (gene PLA2G6 in 22q13.1) {790}  
  22-WmU-
N/3-3
male 4y PBL n.a. n.a.
(gene PLA2G6 in 22q13.1)
{841} case 97  
  22-WmU-
N/4-1
female 2m PBL n.a. megalencephalis leukocephalopathy
(gene MLC1 in 22q13.31)
{951} case PT15  
  22-WmU-
N/5-1
n.a. pernatal fetus n.a. iso-UPD - but no gene identified {967} 1 case  
  22-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

 

NO REPORTS YET

 


References

mat UPD cases with clinical findings or unclear correlation and sSMC

 

for cases with 47,+der(22)t(11;22)(q23;q11) see {423; 424}

 
  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  
  22-WmU-
sSMC/
1-1
22-
Wces-
-5-81
n.a./
n.a.
details not listed 47,+inv dup(22) Cat-eye syndrome {433} case 7; {434} case 36  
                     

 


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  
  22-
WmU-
imb/
1-1
male prenatal placenta
PBL
46,XY in PBL
47,XY,+22 in placenta
growth retardation, dysmorphic signs {78}
{194} 1 case
 
  22-
WmU-
imb/
1-2
female prenatal placenta
PBL skin fibros
46,XX in PBL
mosaic in skin fibros
47,XX,+22 in placenta
growth retardation, dysmorphic signs {149}  
  22-
WmU-
imb/
1-3
n.a. prenatal CH
PBL skin fibros
46 in PBL
mosaic in skin fibros
47,+22 in placenta
growth retardation {306}case 95.64 {484}  
  22-
WmU-
imb/
1-4
male prenatal  PBL 47,XY,+22/46,XY in PBL IUGR, slight mental retardation {485}  
                 

 


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  
  22-WmU-seg-pter/
1-1
female 8y PBL n.a.
-----
22pter to 22q13.1
childhood schizophrenia and facial dysmorphology (gene possibly COMT in 22q11.21)
{666} case 3