case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
11-
WpU-seg/
mos/
1-1 to 1-10
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
pat UPD 11 in
LIT tested in mosaic
|
BWS
|
{579} 10
cases from 'practice group'
|
11-
WpU-seg/
mos/
1-11 to 1-38
|
17 female 11
male
|
postnatal
|
PBL
|
n.a.
---
seg. pat UPD 11 in mosaic
|
BWS
|
{935} 28
cases
|
11-
WpU-seg/
mos/
1-39 to 1-70
|
17 female 11
male
|
postnatal
|
PBL
|
n.a.
---
seg. pat UPD 11 in mosaic
|
BWS
|
{1363} 32
cases
|
11-
WpU-seg/
pter/
mos/
1-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.5
mosaic 50%
|
BWS
|
{782} case
4
|
11-
WpU-seg/
pter/
mos/
1-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.5
mosaic 16%
|
BWS
|
{782} case
7
|
11-
WpU-seg/
pter/
mos/
2-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.4
mosaic 24%
|
BWS
|
{782} case
12
|
11-
WpU-seg/
pter/
mos/
2-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.4
mosaic 25%
|
BWS
|
{782} case
14
|
11-
WpU-seg/
pter/
mos/
2-3
|
n.a.
|
postnatal
|
PBL
tongue
|
n.a.
---
11pter to 11p15.4
mosaic 47% and 27%
|
BWS
|
{782} case
16
|
11-
WpU-seg/
pter/
mos/
2-4
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.4
mosaic
|
BWS
|
{903}
1 case
|
11-
WpU-seg/
pter/
mos/
2-5
to 2-7
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.4
mosaic
|
BWS
|
{955} cases
15, 21, 22
|
11-
WpU-seg/
pter/
mos/
3-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.3
mosaic
|
BWS
|
{955} case
16
|
11-
WpU-seg/
pter/
mos/
4-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.2 in mosaic 39%
|
BWS
|
{782} case
8
|
11-
WpU-seg/
pter/
mos/
4-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.2 in mosaic ?%
|
BWS
|
{828; 1170}
1 case
|
11-
WpU-seg/
pter/
mos/
4-3
to 4-4
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p15.2 in mosaic 50%
|
BWS
|
{955} cases
1, 17
|
11-
WpU-seg/
pter/
mos/
5-1
|
female
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.1 in mosaic
|
BWS (less
expressed)
|
{221; 555}
|
11-
WpU-seg/
pter/
mos/
5-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.1 in mosaic
|
focal form of
neonatal hyperinsulinism (gene ABCC8 in 11p15.1)
|
{726}
|
11-
WpU-seg/
pter/
mos/
5-3
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.1 in mosaic
|
focal form
of hyperinsulinism restricted to
pancreas (gene ABCC8 in 11p15.1)
|
{1236}
|
11-
WpU-seg/
pter/
mos/
6-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p14.3
mosaic 96%
|
BWS
|
{782} case
11
|
11-
WpU-seg/
pter/
mos/
7-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p14.2
mosaic 65%
|
BWS
|
{782} case
6
|
11-
WpU-seg/
pter/
mos/
8-1
|
n.a.
|
postnatal
|
PBL
|
46
---
11pter to
11p14
somatic
mosaicism
|
BWS,
Wilmstumor
|
{208} 1
case
|
11-
WpU-seg/
pter/
mos/
8-2 to 8-10
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p14
all cases also
somatic mosaicism
|
BWS
|
{330} 9
cases
|
11-
WpU-seg/
pter/
mos/
8-11
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p14
mosaic 20-50%
|
BWS
|
{955} case
2
|
11-
WpU-seg/
pter/
mos/
9-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p13
mosaic 21%
|
BWS
|
{782} case
9
|
11-
WpU-seg/
pter/
mos/
10-1
to 10-5
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p12
mosaic cases
|
BWS
|
{955} cases
3-5; 18-19
|
11-
WpU-seg/
pter/
mos/
11-1
to 11-2
|
n.a.
|
newborn
|
PBL
|
n.a.
---
11pter to
11p11 in mosaic
|
BWS
|
{513} 2
cases
|
11-
WpU-seg/
pter/
mos/
12-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p11.2
mosaic 12%
|
BWS
|
{782} case
5
|
11-
WpU-
seg-pter/
mos/
12-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p11.2
mosaic 18%
|
BWS
|
{782} case
10
|
11-
WpU-seg/
pter/
mos/
12-3
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p11.2
mosaic 58%
|
BWS
|
{782} case
13
|
11-
WpU-seg/
pter/
mos/
12-4
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p11.2
mosaic 85%
|
BWS
|
{782} case
15
|
11-
WpU-seg/
pter/
mos/
12-5
|
male
|
newborn
|
PBL
|
n.a.
---
11pter to 11p11.2
mosaic 10-15%
|
BWS
|
{818} case
2
|
11-
WpU-seg/
pter/
mos/
13-1
to 13-5
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to 11p11.1~11.2
mosaic
|
BWS
|
{955} cases
6-9, 24
|
11-
WpU-seg-/
pter/
mos/
14-1
|
male
|
newborn
|
PBL
|
n.a.
---
11pter to 11p11.1
mosaic 7-8%
|
BWS
|
{818} case
1
|
11-
WpU-seg/
p15.5/
mos/
1-1
|
n.a.
|
newborn
|
PBL
|
n.a.
---
11p15.5 to
11p14~13 in mosaic
|
BWS
|
{507}
|
11-
WpU-seg/
p14.2/
mos/
1-1
|
male
|
14y
|
PBL
|
n.a.
---
11p14.2-11p13
in mosaic
|
Sickle cell
anemia (gene HBB in 11p15.4)
|
{563}
|