ChromosOmics - Database

                                                     - CHROMOSOME 18 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 18

UPD PATERNAL
 CHR . 18
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
grade of mosaicism

clinical symptoms
reference
18-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
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
grade of mosaicism

clinical symptoms
reference
18-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
18-
OU-sSMC/
1-1

- - - - - - - -


segmental mat or pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
OU-seg/
/
mos/

1-1
- - - - - -


mat or 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
18-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
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
grade of mosaicism

clinical symptoms
reference
18-
WU-N/

1-1 to 1-2
n.a.
n.a.
PBL
n.a.
most likely DYS  and MR
size of UPD unclear
no gene identified

{828} 2 cases
18-
WU-N/
3-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene ATP8B1 in
18q21.31)
{1300} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
WU-N/

mos/
1-1

- - - - - -


mat or 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
18-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
18-
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
grade of mosaicism

clinical symptoms
reference
18-
WU-seg/
pter/
1-1

n.a.
prenatal
fibroblasts
aCGH: del(X)(p21.1),+16,+18(mosaic)
18p11.31 to 18q12.1 and 18q21.31 to 18q23.

spontaneous abortion
{817} 1 case
18-
WU-seg/
q12~q22.1/

1-1
female
60y
PBL
n.a.
---
18q12 to 18q22.1 (iUPD - not tested for hUPD!)
arrhythmogenic
cardiomyopathy (gene DSC2 in 18q12.1)
{1215}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
WU-seg/
q11.1/
mos/
1-1

n.a.
newborn
PBL n.a.
---
18q11.1 to 18qter
19
Mb [hg19]
25% mos
signs like WHS {1363} case 33


mat or 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
18-
WU-imb/
1-1

male
n.a.
PBL
47,XY,+18[2]/
46,XY[7]

most likely DYS  and MR
size of UPD unclear
no gene identified

{828} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
18-
WU-imb/
mos/
1-1
- - - - - -