ChromosOmics - Database

                                                     - CHROMOSOME 20 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 20

UPD unclear if maternal or paternal
 CHR . 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

segmental UPD-cases without
clinical findings

segmental UPD-cases with or
unclear clinical correlation
UPD-cases without clinical findings
+ other imbalances
UPD-cases with or unclear clinical
correlation + other imbalances
References


pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-N/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-bal/
1-1

- - - - - -


pat UPD-cases without clinical findings + 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]
see below
cenM, subcenM
AMA; healthy child born at term, normal at 3 months of age
{0} case  provided by Dr. Hickmann (Düsseldorf, Germany)
in AF: min(20)(:p11.21~11.22q11.1:)
in chord blood: min(20)(:p11.21~11.22
q11.1:)[8]/min(20)(:p11.21~11.22q11.1::q11.1p11.21~11.22:)[4]/min(20)(:p11.1q11.21:)[1]
FISH-data: RP11-96L6 in 20p (25.47MB) and RP11-243J16 in 20q (29.93MB)
on sSMC


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-seg/
/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OpU-imb/
mos/

1-1

- - - - - -


pat UPD-cases with or unclear clinical correlation + normal karyotype

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
1-6 to 1-11

male and female
postnatal
PBL
n.a.
PHP-Ib
{1147} 6 cases
20-
WpU-N/
2-1

female
postnatal
PBL
n.a.
Severe combined immunodeficiency due to ADA deficiency (gene ADA in 20q13.12)
{723}
20-
WpU-N/
3-1

male
postnatal
PBL
n.a.
PHP-Ib and BWS due to imprinting center defect {1303}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
WpU-N/
mos/

1-1
- - - - - -


pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
WpU-bal/
1-1
-
-
-
-
-
-


pat UPD-cases with or unclear clinical findings + 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-
WpU-sSMC/
1-1

- - - - - - - -


segmental pat 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/
q11/
1-4

n.a.
postnatal
PBL
n.a.
---
20q11 to 20qter

PHP-Ib
{1325} 1 case
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

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
WpU-seg/
/
mos/

1-1
- - - - - -


pat UPD-cases with or unclear clinical correlation + 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}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
WpU-imb/
mos/
1-1
-
-
-
-
-
-