|
|
ChromosOmics - Database
|
-
CHROMOSOME 11 -
-
paternal UPD -
|
|
pat UPD-cases
without clinical findings + normal karyotype
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
11-
OpU-N/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
11-
OpU-N/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
pat UPD-cases without clinical
findings + balanced karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
11-
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
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
11-
OpU-sSMC/
1-1
|
- |
- |
- |
- |
- |
- |
- |
- |
|
segmental
pat UPD-cases without clinical findings
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
11-
OpU-seg/
p15.4/
1-1 to
1-2
|
female
|
32 to
35 y
|
PBL
|
n.a.
---
pat
UPD 11 in 11p15.4 (gene TH01)
|
normal
females
but infertile due to partial or complete
hydatic mole
|
{1145}
|
11-
OpU-seg/
p15.4/
1-3
|
female
|
~32 y
|
PBL
|
n.a.
---
pat
UPD 11 in 11p15.4 (gene TH01)
|
normal
female with gestational trophoblastic
neoplasia
but infertile due to partial or complete
hydatic mole
|
{1145}
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
11-
OpU-seg/
/
mos/
1-3
|
- |
- |
- |
- |
- |
- |
|
pat UPD-cases without clinical findings + other
imbalances |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result |
clinical symptoms
|
reference
|
11-
OpU-imb/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
11-
OpU-imb/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
pat
UPD-cases with or unclear clinical correlation +
normal karyotype |
review on BWS see {835}; in BWS due to
UPD(11)pat developing hyperinsulinaemic
hypoglycaemia
require near-total pancreatectomy - maybe
sirolimus treatment may help as well {939}
Also enhanced cancer
risk in BWS-patients in general and specifically
in such with UPD(11)pat {1233}
Acc. to {1279}
all BWS cases diseased due to UPD
are mosaics.
For general review on BWS see also
{1382 and
1383}.
Acc. to {1594} BWS
patients with UPD(11)pat
having
narrower
mouths
while imprinting center loss lads to
wider tongues and mouths.
{1600} state
that BWS patient with UPD(11)pat
have higher reoperation rates of
macroglossia than others.
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
11-
WpU-N/
1-1 to
1-14
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
Beckwith-Wiedemann-syndrome
(BWS)
|
{129}
|
11-
WpU-N/
1-15 to
1-18
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{139}
cases 49-52
{140}
|
11-
WpU-N/
1-19
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{285}
|
11-
WpU-N/
1-20
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{610} 1
case
|
11-
WpU-N/
1-21
|
male
|
postnatal
|
PBL
|
n.a.
|
BWS (and
hepatoblastoma)
|
{616}
|
11-
WpU-N/
1-22 to
1-23
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{638}
|
11-
WpU-N/
1-24 to
1-119
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{640} 96
cases; in {679} 41 of those cases
|
11-
WpU-N/
1-120 to
1-131
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{654;
672} 11 cases
|
11-
WpU-N/
1-132 to
185
|
n.a.
|
postnatal
|
PBL
|
n.a. |
BWS
|
{672;
674} 54 cases
|
11-
WpU-N/
1-186 to 1-188
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{766}
cases 2 to 4
|
11-
WpU-N/
1-189 to 1-269
|
n.a.
|
postnatal
|
PBL
|
n.a.
unclear if segmental!!
|
BWS
|
{780} 81
cases
|
11-
WpU-N/
1-270
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{804} 1
case
|
11-
WpU-N/
1-271
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{808}
|
11-
WpU-N/
1-272 to 1-406
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{835} 135
cases
|
11-
WpU-N/
1-407
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{843} 1
case
|
11-
WpU-N/
1-408 to 1-430
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{654;
672; 674; 871;943} 22 cases
|
11-
WpU-N/
1-431 to 1-442
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{881} 12
cases
|
11-
WpU-N/
1-443
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{889} 1
case
|
11-
WpU-N/
1-444 to 1-452
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{969} 9
cases
|
11-
WpU-N/
1-453 to 1-454
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{985} 2
cases
|
11-
WpU-N/
1-455 to 1-456
|
n.a.
|
prenatal
|
AF
|
n.a.
|
BWS
|
{1098} 2
cases
|
11-
WpU-N/
1-457
|
n.a.
|
newborn
|
PBL
|
n.a.
|
BWS
|
{1123}
|
11-
WpU-N/
1-458
|
n.a.
|
child
|
PBL
|
n.a.
|
BWS
|
{1205} 1
case
|
11-
WpU-N/
1-459
|
n.a.
|
child
|
PBL
|
n.a.
|
BWS
|
{1250} 1
case
|
11-
WpU-N/
1-460 to
1-497
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1270;
1271} overall 38 cases
|
11-
WpU-N/
1-498 to
1-505
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1292} 8
cases
|
11-
WpU-N/
1-506 to
1-507
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1353} cases 1 to 2
|
11-
WpU-N/
1-508 to
1-517
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1355} 10 cases
|
11-
WpU-N/
1-518 to
1-529
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1360} 12 cases
|
11-
WpU-N/
1-530
|
female
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1388}, case 1
|
11-
WpU-N/
1-531 to
1-541
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1413} 11 cases
|
11-
WpU-N/
1-542
|
female
|
4m
|
PBL
|
n.a.
|
BWS
|
{1430}
|
11-
WpU-N/
1-543
|
male
|
1y
|
PBL
|
n.a.
|
BWS
and Wilms tumor
|
{1467}
|
11-
WpU-N/
1-544
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
and Wilms tumor
|
{1475}
|
11-
WpU-N/
1-545 to
1-558
|
10 male
3 female
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1527} 13 cases
|
11-
WpU-N/
1-559
|
female
|
prenatal
|
AF
|
46,XY
|
BWS; TOP
|
{1528} case 25
|
11-
WpU-N/
1-560 to
1-562
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1580} 3 cases
|
11-
WpU-N/
1-563 to
1-577
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1594} 15 cases
|
11-
WpU-N/
1-578 to
1-581
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1600} 4 cases |
11-
WpU-N/
1-582 to
1-617
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{1605} 36 cases |
11-
WpU-N/
2-1
|
male
|
postnatal
|
PBL
|
n.a.
|
focal BWS
and ß-thalassemia
(gene HBB in 11p15.4)
|
{84}
|
11-
WpU-N/
3-1 to
3-4
|
n.a.
|
postnatal
|
PBL
|
46,XN
UPD only
proven for band 11p15
|
focal form
of neonatal hyperinsulinism (gene ABCC8 in 11p15.1)
|
{146} 4
cases
|
11-
WpU-N/
4-1 to 5-2
|
n.a.
|
postnatal
|
PBL, tongue
|
n.a.
UPD11 only in tongue not in blood detected
|
BWS
|
{794} 2
cases
|
11-
WpU-N/
5-1 to 5-4
|
n.a.
|
postnatal
|
PBL
|
n.a.
|
BWS
|
{947}
cases 17, 128, 220, 227b}
|
11-
WpU-N/
6-2 to 6-3
|
n.a.
|
newborn
|
PBL
|
46,XN
UPD only
proven for band 11p15 and mosaic
|
BWS and
congenital hyperinsulinism and
hemihypertrophy
(gene KCNJ11 in 11p15.1)
|
{1386} cases 8 and 9
|
11-
WpU-N/
7-1 to 7-4
|
n.a.
|
postnatal,
children |
PBL
|
n.a.
|
no BWS but Cushing
syndrome in one of 4 and all with
adrenocortical tumors
|
{1353} cases 3-6
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
11-
WpU-N/
mos/
1-1 to 1-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
UPD in mosaic - not specified
|
BWS
|
{1304} 2
cases
|
11-
WpU-N/
mos/
1-3
|
female
|
postnatal
|
PBL
|
46,XX
acc to mol.
genet. result mosaic of cells with and without
pat UPD
|
BWS
|
{157} case
3
|
11-
WpU-N/
mos/
1-4
|
female
|
postnatal
|
PBL;
different tissues
|
n.a.
acc to mol.
genet. result mosaic of cells with and without
pat UPD
|
BWS
|
{224}
|
11-
WpU-N/
mos/
1-5 to 1-6
|
n.a.
|
postnatal
|
PBL
|
n.a.
10-20% only
with UPD
|
BWS
|
{713} cases
KvDMR and H19DMR
|
11-
WpU-N/
mos/
1-7
|
female
|
postnatal
|
PBL
|
n.a.
90% only with UPD
|
BWS
|
{935} case
21-006
|
11-
WpU-N/
mos/
1-8
to 1-13
|
n.a.
|
postnatal
|
PBL
|
n.a.
mosaic of UPD
|
BWS
|
{955} cases
10-14; 25
|
11-
WpU-N/
mos/
1-14
|
female
|
5m
|
PBL
|
n.a.
mosaic of UPD 11
only 11p15.5
region tested
|
BWS
|
{1117}
|
11-
WpU-N/
mos/
1-15
|
n.a.
|
newborn
|
PBL
|
n.a.
mosaic of UPD 11
only 11p15.5
region tested
|
BWS
|
{1150}
|
11-
WpU-N/
mos/
1-16
|
n.a.
|
newborn
|
PBL
|
n.a.
mosaic of UPD 11
only 11p15.5
region tested
|
BWS
|
{1339} 1
case
|
11-
WpU-N/
mos/
1-17 to 1-28
|
n.a.
|
postnatal
after IVF
|
PBL
|
n.a.
mosaic of UPD 11
unclear
which region tested
|
BWS
|
{1406} 12
cases
|
11-
WpU-N/
mos/
1-29 to 1-33
|
n.a.
|
postnatal
|
PBL
|
n.a.
mosaic of UPD 11
unclear
which region tested
|
BWS
|
{1440} 5
cases
|
11-
WpU-N/
mos/
1-34
|
female
|
2m
|
PBL
|
n.a.
mosaic of UPD 11
unclear
which region tested
|
BWS
|
{1491}
|
11-
WpU-N/
2-1 to 2-5
|
n.a.
|
postnatal
|
PBL
|
46,XN
UPD only
proven for band 11p15 and mosaic
|
focal form of
neonatal hyperinsulinism (gene ABCC8 in 11p15.1)
|
{1386}
cases 1-5
|
11-
WpU-N/
3-1 to 3-2
|
n.a.
|
newborn
|
PBL
|
46,XN
UPD only
proven for band 11p15 and mosaic
|
BWS and
congenital hyperinsulinism and hemihypertrophy
(gene KCNJ11 in 11p15.1)
|
{1386}
cases 8 and 9
|
|
pat
UPD-cases with or unclear clinical correlation+
balanced karyotype
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
11-
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
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
11-
WpU-sSMC/
1-1
|
- |
- |
- |
- |
- |
- |
- |
- |
|
segmental
pat UPD-cases with or unclear clinical correlation
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
11-
WpU-seg/
1-1 to 10
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
pat UPD 11
in LIT tested
|
BWS
|
{579} 6
cases from 'validation group' and 4 from
'practice group'
|
11-
WpU-seg/
1-11 to 1-18
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
pat UPD 11 (at least in 11p15)
|
BWS
|
{798} 8
cases
|
11-
WpU-seg/
1-19
|
female
|
1m
|
PBL
|
n.a.
---
pat UPD 11 (at least in 11p15)
|
BWS
|
{939}
|
11-
WpU-seg/
pter/
1-1 to
1-2
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.5
|
BWS
|
{139}
cases 1-2
{140}
|
11-
WpU-
seg-pter/
1-3 to
1-4
|
n.a.
|
postnatal
|
PBL
|
46,XN
---
11pter to
11p15.5
|
BWS
|
{609}
cases 6-7
|
11-
WpU-seg/
pter/
1-5
|
female
|
16y
|
PBL and
fibroa-denoma
|
n.a.
---
11pter to 11p15.5
|
BWS
|
{861}
|
11-
WpU-seg/
pter/
1-6 to 1-7
|
n.a.
|
postnatal
|
n.a.
|
n.a.
---
11pter to 11p15.5
|
BWS after
ART
|
{1012} 2
cases
|
11-
WpU-seg/
pter/
1-8
|
n.a.
|
postnatal
|
PBL;
hepato-blastoma
|
n.a.
---
11pter to 11p15.5
|
BWS
|
{1030}
|
11-
WpU-seg/
pter/
2-1 to
1-12
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.4
|
BWS
|
{139}
cases 3-14
{140}
|
11-
WpU-seg/
pter/
3-1 to
3-5
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p15.1
|
BWS
|
{139}
cases 15-19
{140}
|
11-
WpU-seg/
pter/
4-1 to
4-2
|
2 female
|
prenatal
|
AF
|
46,XX
---
11pter to
11p15
|
BWS;
omphalocoele, TOP
|
{195} 2
cases
|
11-
WpU-seg/
pter/
5-1
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p14.3
|
ß-thalassemia
major evolution from ß-thalassemia minor
(gene HBB in 11p15.4)
|
{498}
|
11-
WpU-seg/
pter/
6-1 to
6-8
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p14
|
BWS
|
{139}
cases 20-27
{140}
|
11-
WpU-seg/
pter/
6-9 to
6-12
|
n.a.
|
postnatal
|
PBL
|
46
---
11pter to
11p14
|
BWS,
Wilmstumor
|
{208} 4
cases
{209} 2 cases
|
11-
WpU-seg/
pter/
6-13
|
male
|
postnatal
|
PBL
|
46,XY
---
11pter to
11p14
|
BWS;
permanent neonatal diabetes, hemihypertrophy
(gene ABCC8 in 15p15.1)
|
{325}
|
11-
WpU-seg/
pter/
6-14
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p14
|
BWS
|
{348}
family 5
{351; 349}
|
11-
WpU-seg/
pter/
6-15
|
n.a.
|
postnatal
|
PBL
|
46,XN
---
11pter to
11p14
|
BWS
|
{609}
case 8
|
11-
WpU-seg/
pter/
6-16
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p14
|
BWS
|
{619}
case 37
|
11-
WpU-seg/
pter/
7-1
|
male
|
newborn
|
PBL
|
46,XY
---
11pter to
11p14~13
|
BWS
|
{106}
|
11-
WpU-seg/
pter/
8-1 to
8-8
|
n.a.
|
postnatal
|
PBL
|
n.a.
---
11pter to
11p13
|
BWS
|
{139}
cases 28-35
{140}
|
11-
WpU-seg/
pter/
8-9 to
8-14
|
3 male, 3
female
|
postnatal
|
PBL
|
46,XX or
46,XY
---
11pter to
11p13
|
BWS
|
{157}
cases 1-2 and 4-7
|
11-
WpU-seg/
pter/
8-15
|
n.a.
|
postnatal
|
PBL
|
46,XN
---
11pter to
11p13
|
BWS
|
{609}
case 5
|
11-
WpU-seg/
pter/
9-1
|
n.a.
|
| |