ChromosOmics - Database

                                                     - CHROMOSOME 11 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 11

UPD PATERNAL
 CHR . 11
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


mat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-N/
mos/

1-1
- - - - - -


mat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-bal/
1-1

- - - - - -


mat 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
11-
OmU-sSMC/
1-1

- - - - - - - -


segmental mat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-seg/
/
mos/

1-1
- - - - - -


mat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
OmU-imb/
mos/

1-1

- - - - - -


mat 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
11-
WmU-N/
1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
WmU-N/
1-1
female
newborn
PBL
46,XX;
mosaic UPD 11 - 18%
SRS
{121}
11-
WmU-N/
1-2

male
newborn
PBL
buccal muccosa

46,XY
UPD in mosaic

SRS
{948; 1266}
11-
WmU-N/
1-3

n.a.
postnatal
PBL
n.a.
UPD in mosaic

SRS
{970} 1 case
11-
WmU-N/
1-4

male
postnatal
PBL
46,XY
UPD in mosaic

SRS
{1315} case 2


mat 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
11-
WmU-bal/
1-1
-
-
-
-
-
-


mat 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
11-
WmU-sSMC/
1-1

- - - - - - - -


segmental mat UPD-cases with or unclear clinical correlation

ase no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
WmU-
seg/
pter/

1-1
male
postnatal
PBL
46,XY
---
11pter to 11p15.?1
SRS - also IUGR and UPD only tested by SNP-array
{1315} case 1
11-
WmU-
seg/
q11.1/

1-1
n.a.
prenatal
PBL
n.a.
---
11q11.1 to 11qter
n.a.
{1130} case 4
11-
WmU-
seg/
q12.3/

1-1
n.a.
12y
PBL
n.a.
---
11q12.3 to 11qter
encephalopathy
{619} case 36
11-
WmU-
seg/
q13/

1-1
n.a.
12y
PBL
n.a.
---
11q13.1 to qter;
  64.12 Mb
[hg19]
encephalopathy
{1363} case 10

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
WmU-seg/
q13.4/
mos/
1-1

n.a.
postnatal
PBL
n.a.
---
11q13.4 to 11qter in mosaic

lines of Blaschko
{800} case 4


mat 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
11-
WmU-imb/
1-1
male
newborn
PBL
46,XY,der(15)t(11;15)(p15.5;p12)dmat
Silver Russel Syndrome
{647}
11-
WmU-imb/
3-1
male
postnatal
PBL
46,XY,del(11)(q23.3)/46,XY
–-
11q23.3 to 11qter in normal cells
Jacobsen syndrome - due to deletion of responsible gene in 11q23
{425}
11-
WmU-imb/
4-1
female
25y
PBL
46,XX,der(19)t(11;19)(q13;p13.3)/46,XX
---
11q13 to 11qter in normal cells
MR
{404}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
WmU-imb/
mos/
1-1

male
55y
PBL
46,XY,der(11)t(2;11)(q35;q25)dpat
[86]/46,XY[14]
UPD in 90% 11q25
to qter (start at 133.317715)
DD, MR
In sister same cytog. condition but UPD 11q13.2q25
(67.672729-133.303640) in 10% of cells
{1366}