ChromosOmics - Database

                                                     - CHROMOSOME 17 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 17

UPD PATERNAL
 CHR . 17
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotpe
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
17-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
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
17-
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
17-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
OU-seg/
pter/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
17pter to 17p13.2 (in 34% of PBL)
normal adult with bladder cancer
{545} case 815
17-
OU-seg/
pter/
mos/

2-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
13q12.1 to 13qter (in 28% of PBL) and 17pter to 17p11.2 (in 39% of PBL)
normal adult with bladder cancer
{545} case 962
17-
OU-seg/
pter/
mos/

2-2
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
 
17pter to 17p11.2 (in 36% of PBL)
normal adult with gastrointestinal cancer
{1083}
case in Tab 3
17-
OU-seg/
q21.2/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
17q21.2 to 17qter (in 28% of PBL)
normal adult with bladder cancer
{545} case 369
17-
OU-seg/
q22/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
17q22 to 17qter (in 21% of PBL)
normal adult
{545} case 1007


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
17-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
WU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
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
17-
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
17-
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
17-
WU-seg/
q12/
1-1

n.a.
postnatal
PBL
n.a.
---
i(UPD) in 17q12 to 17q21.1
no gene identified

clinically abnormal
{947} case 76
17-
WU-seg/
q21.32/
1-1

n.a.
postnatal
PBL
n.a.
---
i(UPD) in 17q21.32 to 17q23.2
no gene identified

clinically abnormal
{947} case 189

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
WU-seg/
/
mos/
1-1

- - - - - -


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
17-
WU-imb/
1-1

n.a.
13y
PBL
aCGH x3: 17p13.3-17p13.2
iUPD: 17pter-17p13.3

DD
{1363} case 50
17-
WU-imb/
2-1

n.a.
2.5y
PBL
aCGH x3: 17q25.3-17q25.3
iUPD: 17q25.3-17qter

DD
{1363} case 51
17-
WU-imb/
3-1

female
8y
PBL
n.a.
---
17q22 to 17q24.2
neurodevelopmental disorder
(iso-UPD 17 - no gene identifed) but del(X)(q22.33q22.33)
{1162} case 47

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
17-
WU-imb/
mos/
1-1
-
-
-
-
-
-