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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 2 -

 

      
 

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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  02-
OpU-N/
1-1
male adult PBL n.a. none - detceted during a genome wide SNP scan {232}  
  02-
OpU-N/
1-2
male postnatal PBL n.a. none - paternity test {696}  
  02-
OpU-N/
1-3
female postnatal PBL n.a. none - paternity test {961}  
                 

 


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

 

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  02-
OpU-
seg-
pter/

1-1
female 36y PBL 46,XX,i(2)(p10),i(2)(q10)
-----
2pter to 2p11
normal female due to repeated abortions {58}
{348; 349} family 4
 
  02-
OpU-
seg-
pter/

1-2
male 34y PBL 46,XY,i(2)(p10),i(2)(q10)
-----
2pter to 2p11
normal male studied due to repeated abortions in female partner {450}  
                 

 


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  
  02-
WpU-N/
1-1
male 14y PBL 46,XY pseudovaginal perineoscrotal hypospadias (gene SRD5A2 in 2p23.1) {133 = 709}  
  02-
WpU-N/
2-1
male 9y PBL 46,XY Donnai-Barrow syndrome (gene LRP2 in 2q31.1)
{228}  
  02-
WpU-N/
3-1
male newborn PBL n.a. Crigler-Najjar type I syndrome (gene UGT1A1 in 2q37.1)
{291}  
  02-
WpU-N/
4-1
male newborn PBL n.a. see below {345} case 2  
 

severe intellectual disability, dysmorphic features (deep set eyes, right ptosis, hypoplastic alanase, very curly hair), atrial septal defect, ventricular septal defect, hypoplastic aortic arch and left ventricle, multiple arteriovenous malformation , mild coarctation, hypoplasia of cerebellar vermis. Short stature, microcephaly, gastric esophageal reflux, poor feeding and pulmonary hypertension.

 
  02-
WpU-N/
5-1
female adult PBL 46,XX retinitis pigmentosa 38 (gene MERTK in 2q13) {69}  
  02-
WpU-N/
6-1
female newborn PBL n.a. juvenileor adult onsetcongenitalprimary open angle glaucoma 3A (gene CYP1B1 in 2p22.2)
{488; 710}  
  02-
WpU-N/
7-1
female newborn PBL n.a. long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (gene HADHA/ LCHAD in 2p23.2)
{572}  
  02-
WpU-N/
8-1
n.a. 1y 4 m PBL n.a. abnormal phenotype
{619} case 3  
  02-
WpU-N/
9-1
male 5y 6 m PBL n.a. progressive familial intrahepatic cholestasis 2 (gene ABCB11 in 2q31.1)
{665; 712; 888; 932}  
  02-
WpU-N/
10-1
male 10y PBL n.a. Escobar syndrome (gene CHRNG in 2q37.1) {841} case 432  
  02-
WpU-N/
11-1
male postnatal PBL n.a. Vitamin K-dependent coagulant factor deficiency (VKCFD) (gene GGCX in 2p11.2) {975}  
  02-
WpU-N/
12-1 to 12-3
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  
  02-
WpU-
imb/
1-1
female newborn CH; PBL 47,XX,+2 in CH
46,XX in PBL
harlequin ichthyosis (gene ABCA12 in 2q35)
{127}  
                 

 


References

pat segmental UPD cases with or unclear clinical correlation

 

NO REPORTS YET