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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 1 -

 

      
 

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  
  01-
OpU-
N/1-1
male 22y PBL 46,XY[71]/
46,XY,1qh+,1qh+[29]
normal male detected by chance by RH-D factor determination {271} case 1  
  01-
OpU-
N/1-2
female 23y PBL 46,XX normal female detected by chance by RH-D factor determination {271} case 2  
  01-
OpU-
N/1-3
n.a. child PBL n.a. normal person detected by chance during paternity test {578}  
  01-
OpU-
N/2-1
n.a. n.a. PBL 46,XN normal person detected by chance during screening for schizophrenia locus {72} 1 case  
                 

 


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  
  01-
WpU-
N/1-1
male newborn PBL 46,XY pycnodysostosis (gene CTSK in 1q21.3)
{65}  
  01-
WpU-
N/2-1
female 2m PBL n.a.   epidermolysis bullosa, junctional, Herlitz type (gene LAMC2 in 1q25.3) {66}  
  01-
WpU-
N/2a-1
female newborn PBL 46,XX epidermolysis bullosa, junctional, Herlitz type (gene LAMB3 in 1q32.2) {70}  
  01-
WpU-
N/3-1
male 2y PBL 46,XY congenital insensitivity to pain with anhidrosis (gene CIPA in 1q23.1) {67; 223}  
  01-
WpU-
N/4-1
female 2y PBL n.a. Usher syndrome type II with retinitis pigmentosa (gene USH2A in 1q41)
{68}  
  01-
WpU-
N/5-1
male 51y PBL 46,XY retinal dystrophy (gene RPE65 in 1p31.1)
{69; 511}  
  01-
WpU-
N/6-1
female 4m PBL n.a. fumarase deficiency (gene FH in 1q43)
{73}  
  01-
WpU-
N/7-1
female 15y PBL n.a. Stargardt disease 1 (gene ABCA4 in 1p22.1)
{74}  
  01-
WpU-
N/8-1
male 1.5y PBL 46,XY Charcot-Marie-Tooth 1B (gene MPZ in 1q23.3) and Gaucher disease Type III (gene GBA in 1q22)
{75}  
  01-
WpU-
N/9-1
n.a. 1y PBL 46,XN susceptibility to atypical hemolytic uremic syndrome 2 (gene CD46 in 1q32.2) {181}  
  01-
WpU-
N/10-1
male 8m PBL 46,XY Chediak-Higashi syndrome (gene CHS1 in 1q42.3)
{546}  
  01-
WpU-
N/11-1
male newborn PBL n.a. rhizomelic chrondrodysplasia punctata type 2 (gene GNPAT in 1q42.2)
{571}  
  01-
WpU-
N/12-1
n.a. 6m PBL n.a. complement factor H deficiency and endocapillary glomerulonephritis (gene HF1 in 1q31.3)
{601; 781}  
  01-
WpU-
N/12-2
male 9m PBL n.a. complement factor H deficiency and endocapillary glomerulonephritis (gene HF1 in 1q31.3) {781}  
  01-
WpU-N/
13-1
n.a. 6y PBL n.a. Neonatal seizures, extreme hypotonia, profound MR, extreme cortical blindness. (iso UPD 1 - gene not identified) {619} case 2  
  01-
WpU-N/
14-1
male 26y PBL n.a. morbid obesity due to leptin receptor deficiency (gene LEPR in 1p31.3)
{722}  
  01-
WpU-N/
15-1
female 6y PBL n.a. camptodactyly-arthropathy-coxa vara-pericarditis syndrome (gene PRG4 in 1q31.1)
{752} patient 4  
  01-
WpU-N/
16-1
n.a. postnatal PBL n.a. see below {763} case 258370  
  Short attention span, moderately short stature, joint hypermobility, impaired T cell function, IgG deficiency, slow-growing hair, high anterior hairline, abnormality of the nasal tip, abnormality of the skeletal system, hypermetropia  
  01-
WpU-N/
17-1
n.a. postnatal PBL n.a. infantile hypophosphatasia (gene ALPL in 1p36.12)
{779}  
  01-
WpU-N/
18-1
n.a. postnatal PBL n.a. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (gene HMGCL in 1p36.11)
{873}  
  01-
WpU-N/
19-1
n.a. postnatal PBL n.a. Kabuki syndrome (gene RAP1 gene in 1p36.12)  {911}  
  01-
WpU-N/
20-1
female 19m PBL n.a. infantile neuronal ceroid lipofuscinosis (gene PPT1 in 1p34.2) {954; 981}  
  01-
WpU-N/
20-2
n.a. 5y PBL n.a. infantile neuronal ceroid lipofuscinosis (gene PPT1 in 1p34.2) {980}  
  01-
WpU-N/
21-1 to 21-2
n.a. n.a. n.a. n.a. n.a. {982}  
                 

 


References

pat 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  
  01-
WpU-bal/
1-1
female 43y PBL 46,XX,i(1)(p10),i(1)(q10) minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis {71}  
                 

 

 


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

 

NO REPORTS YET

 


References

pat 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  
  01-
WpU-
seg-pter/
1-1
male 'prenatal' fetal tissue 46,XY
-----
1pter to 1p21
infantile hypophosphatasia  (gene ALPL in 1p36.12), TOP
{369}  
  01-
WpU-
seg-pter/
2-1
female 15y PBL 46,XX
-----
1pter to 1p34 and 1q24.1 to 1qter
hypomyelinating leukodystrophy 2 (gene GJC2 in 1q42.13) {372}  
  01-
WpU-
seg-p22.3/
1-1
n.a. n.a. PBL n.a.
-----
1p22.3 to 1q23.3
juvenile hemochromatosis type 2a (gene HJV in 1q21.1)
{801}  
  01-
WpU-
seg-p21/
1-1
female 2y PBL 46,XX
-----
1p21 to 1p13
Stargardt disease 1 (gene ABCA4 in 1p22.1) {300}  
  01-
WpU-
seg-q31.3/
1-1
n.a. postnatal PBL n.a.
-----
1q31.3; 73MB
Leber congenital amaurosis 8 (gene CRB1 in 1q31.3)
{501}