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CASES WITH UNIPARENTAL DISOMY
- paternal UPD 20 -

 

      
 

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

 

 
  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  
  20-
OpU-
sSMC/
1-1
20-O-p11.21
~11.22/

1-1
male/
prenatal
AF
chord blood
47,XY,+mar[10]/
46,XY[55]
in AF:
min(20)(:p11.21~11.22
q11.1:)
in chord blood:
min(20)(:p11.21~11.22
q11.1:)[8]/
min(20)(:p11.21~11.22
q11.1:
:q11.1
p11.21~11.22:)[4]
min(20)(:p11.1
q11.21:)[1]
FISH-data: RP11-96L6 in 20p (25.47MB) and RP11-243J16 in 20q (29.93MB) on sSMC
cenM, subcenM Amniocentesis due to advanced maternal age; healthy child born at term, normal at 3 months of age {0} case 1 provided by Dr. Hickmann (Düsseldorf, Germany)  
                     

 


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

 

for review see {834}

 
  case no. gender age at diagnosis studied
material
GTG-banding result
grade of mosaicism
clinical symptoms reference  
  20-
WpU-N/
1-1
female 3y PBL 46,XX Pseudohypoparathyoridism type Ib (PHP-Ib) {554}  
  20-
WpU-N/
1-2
n.a. postnatal PBL n.a.
pat20p heterodisomy plus interstitial 20q isodisomy
PHP-Ib {558; 868} case 1  
  20-
WpU-N/
1-3
female postnatal PBL n.a. PHP-Ib - maybe also in brother
{682}  
  20-
WpU-N
1-4
male 5y PBL n.a. PHP-Ib {867}  
  20-
WpU-N
1-5
male 21y PBL n.a. PHP-Ib and osteosarcoma
{965}  
  20-
WpU-N/
2-1
female postnatal PBL n.a. Severe combined immunodeficiency due to ADA deficiency (gene ADA in 20q13.12) {723}  
                 

 


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  
  20-
WpU-
imb/
1-1
male newborn PBL 47,XX,+20/45,XY,psu dic(20;20)(p13;p13)/46,XX,psu dic(20;20) absence of external ears, multiple aberrations {102}  
                 

 


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  
  20-WpU-seg-q11/
1-1
n.a. postnatal PBL n.a.
-----
20q11 to 20qter
PHP-Ib {348, 349} family 6; {350} {487; {558, 868} case 2  
  20-WpU-seg-q11/
1-2 to 1-3
male and female postnatal PBL n.a.
-----
20q11 to 20qter
PHP-Ib {866} 2 cases  
  20-WpU-seg-q12/
1-1
male postnatal PBL n.a.
-----
20q12 to 20qter
PHP-Ib {707} case 1  
  20-WpU-seg-q13.13/
1-1 to 1-2
n.a. postnatal PBL n.a.
------
20q13.13 to 20qter
PHP-Ib {558, 868} 2 cases  
  20-WpU-seg-q13.2/
1-1
female prenatal AF 46,XX,t(11;20)(p13;p13)mat
-----
20q13.2 to 20qter
n.a. {0} provided by Dr. Cláudia Manuela Alves Calder, Porto, Portugal  
  20-WpU-seg-q13.31/
1-1
male postnatal PBL n.a.
-----
20q13.31 to 20q13.32
PHP-Ib {707} case 2