ChromosOmics - Database

                                                     - CHROMOSOME 11 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 11

UPD unclear if maternal or 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


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
11-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
11-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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.

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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/
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}
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/
6-1

female
newborn
PBL
n.a.
mosaic iso-UPD

BWS and congenital hyperinsulinism and hemihypertrophy
(gene
KCNJ11 in 11p15.1)
{949; 995}
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
grade of mosaicism

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/
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/
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/
  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/
1-7


female

postnatal
PBL
n.a.
90% only with UPD

BWS
{935} case 21-006
11-
WpU-N/
1-8 to 1-13

n.a.
postnatal
PBL
n.a.
mosaic of UPD

BWS
{955} cases 10-14; 25
11-
WpU-N/
1-14

female
5m
PBL
n.a.
mosaic of UPD 11
only 11p15.5 region tested

BWS
{1117}
11-
WpU-N/
1-15

n.a.
newborn
PBL
n.a.
mosaic of UPD 11
only 11p15.5 region tested

BWS
{1150}
11-
WpU-N/
1-16

n.a.
newborn
PBL
n.a.
mosaic of UPD 11
only 11p15.5 region tested

BWS
{1339} 1 case


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
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
grade of mosaicism

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
grade of mosaicism

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.
postnatal
PBL
46,XN
---
11pter to 11p12
BWS
{609} case 3
11-
WpU-
seg/
pter/

10-1
n.a.
newborn
PBL
n.a.
---
11pter to 11p11
BWS, Wilmstumor
{397}
11-
WpU-
seg/
pter/

11-1 to 11-13
n.a.
postnatal
PBL
n.a.
---
11pter to 11p11
BWS
{139} cases 36-48
{140}

11-
WpU-
seg/
pter/

12-1 to 12-4
n.a.
postnatal
PBL
46,XN
---
11pter to 11p11.2
BWS
{609} cases 1, 2, 4, 9
11-
WpU-seg/
pter/
2-1
male
5m
PBL
n.a.
---
11pter to 11p11.1

no BWS but Cushing syndrome
{1317}
11-
WpU-
seg/
p15/

3-1 to 3-2
n.a.
postnatal
PBL
n.a.
---
11p15
ß-thalassemia major evolution from ß-thalassemia minor (gene HBB in 11p15.4)
{549; 716} two families
11-
WpU-seg/
p15/
4-1

n.a.
postnatal
PBL
n.a.
---
11p15-11p15

BWS
{766}
case 1


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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}


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
11-
WpU-imb/
1-1
male
prenatal
AF, placenta
AF: 47,XY,+11/46,XY
placenta: 47,XY,+11
IUGR, TOP
{374}
11-
WpU-imb/
2-1

male
newborn
PBL
46,XY,der(11)(pter→q13.4:: q13.4→q14.3:
:q14.3→q13.4: :q13.4→qter)
UPD(11)seg 11q14.3 to 11qter

DD, growth retardation; DYS
{900}
11-
WpU-imb/
3-1

n.a.
prenatal
AF
46,XN,+3,+7,+8
hydatiform mole
{958}
11-
WpU-imb/
4-1

male
newborn
PBL
46,XY,trp(11)(q13.4q14.3)
UPD only in triplicated region

dwarphism, DD, DYS
{1301}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
11-
WpU-imb/
mos/

1-1
-
-
-
-
-
-