ChromosOmics - Database


Icon by Leon Liehr             

                                                     - CHROMOSOME 11 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 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 or pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-N/
mos/

1-1
- - - - - -


mat or pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-bal/
1-1

- - - - - -


mat or 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-
OU-sSMC/
1-1

- - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-
seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-
seg/
q13.1/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
11q13.1 to 11qter (in 22% of PBL)
normal adult
{545} case 843


mat or pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-imb/

1-1

female
28y
PBL
46,XX
UPD(11) due to rescue of a karyotype 46,XX,del(11)(q22.3)

normal female, but 2 children with del(11)(q22.3)
{1102}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
OU-imb/
mos/

1-1
- - - - - -


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

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
WU-/
1-1
n.a.
n.a. n.a. n.a. n.a.
{1170} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
WU-/
mos/

1-1
male
78
PBL
n.a.
UPD in mosaic

late onset ß-thalassemia
(gene
HBB in 11p15.4)
{823}


mat or 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-
WU-bal/
1-1
-
-
-
-
-
-


mat or 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-
WU-sSMC/
1-1

- - - - - - - -


segmental mat or pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
WU-
seg/
1-1
n.a.
postnatal
PBL
n.a.
---
exact localization or size not reported
Microcephaly, developmental delay, seizures,
stereotypic hand movement

{1213} case N7
11-
WU-seg/
pter/
2-1

n.a.
4y
PBL
n.a.
---
11pter to 11p15.4 (size 1.554 Mb)

DD, intellectual disability, DYS
{924}
case 9

11-
WU-seg/
pter/
3-1

n.a.
5y
PBL
n.a.
---
11p15.5 to 11p15.4 (size 1.554 Mb)

DD, autism, intellectual disability, overgrowth
{924}
case 7

11-
WU-seg/
pter/
4-1

n.a.
10y
PBL
n.a.
---
11p15.5 to 11p15.4 (size 1.147 Mb)

DD, autism, intellectual disability, overgrowth
{924}
case 8


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
WU-
seg/
pter/
mos/

1-1
n.a.
4m
PBL
46,XN
---
11pter to 11p15.1 (in 20% of PBL)

hemihypertrophy
{652} case 10
11-
WU-
seg/
pter/
mos/

1-2
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
11pter to 11p15.1 (in 30% of PBL)
normal adult with gastrointestinal cancer
{1083}
case in Tab 3
11-
WU-seg/
pter/
mos/
2-1

n.a.
10y
PBL
46,XY
---
11p15.5 to 11p12 (
[hg19] chr11: 491 333-43 189 376)
iUPD in mosaic
congenital heart defect and multiple developmental disorders
{1200}
11-
WU-seg/
q13.4/
mos/
1-1

n.a.
prenatal
AF n.a.
---
11q13.4 to 11qter
72.66
Mb [hg19]
25% mos
different sonograph. abnomalies {1363} case 23


mat or pat UPD-cases with or unclear clinical correlation + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
WU-imb/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
clinical symptoms
reference
11-
WU-imb/
mos/
1-1

- - - - - -