ChromosOmics - Database

                                                     - CHROMOSOME 9 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 9

UPD PATERNAL
 CHR . 9
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
09-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
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
09-
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
09-
OU-
seg/
pter/

2-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
9pter to 9p24.1
normal adult with gastrointestinal cancer
{1083}
case in Tab 3


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
OU-
seg/
pter/
mos/

1-2
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
9pter to 9p13.1 (in 83% of PBL)
normal adult with bladder cancer
{545} case 586


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
09-
OU-imb/

1-1

n.a.
adult
PBL
n.a. acc. to array partial trisomy 9 and 22 in 72-74% of PBL
---
9pter to 9p13.1
normal adult with bladder cancer
{545} case 1185

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
WU-N/

1-1
n.a.
prenatal trophectoderm biopsies
n.a.
n.a.
{1131}
01-
WU-N/
2-1 to 3-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 2 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
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
09-
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
09-
WU-
seg/
p13.3/

1-1
n.a.
n.a.
PBL
n.a.
---
9p13.3 (unclear if mat or pat origin)
classical galactosaemia (gene GALT in 9p13.3)
{365}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
WU-
seg/
q13/
mos/

1-1
n.a.
4y
PBL n.a.
---
9q13 to 9qter
67.03
Mb [hg19]
40% mos
autism {1363} case 21
09-
WU-
seg/
q13/
mos/

1-2
n.a.
prenatal
fibroblasts n.a.
---
9q13 to 9qter
67.03
Mb [hg19]
40% mos
loss at 22 wog {1363} case 22


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
09-
WU-imb/
1-1
female
postnatal
PBL
47,XX,+9/46,XX
n.a.; blood group system mixed
{778}
09-
WU-imb/
1-2

n.a.
n.a.
PBL
47,XN,+9[11%]/
46,XN[89%]

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

{828; 1170} 1 case
09-
WU-imb/
2-1

female
5y
PBL
n.a.
acc. to aCGH triplication of 9q21.11-q21.33

citrullinemia (gene ASS1 in 9q34.11)
{828} 1 case
09-
WU-imb/
3-1

male
newborn
PBL
n.a. acc. to aCGH copy number gains at
Xq28 and 10q26.11-
q26.12, copy number
loss at 16q23.1

3-methylglutaconic
aciduria, type I (gene
AUH in 9q22.31)
{828} 1 case
09-
WU-imb/
4-1

n.a.
6y
PBL
aCGH x3: 9p22.3-9p21.3
iUPD: 9pter-9p22.3

DD
{1363} case 49

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
WU-imb/
mos/

1-1
- - - - - -