ChromosOmics - Database

                                                     - CHROMOSOME 5 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 5

UPD PATERNAL
 CHR . 5
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
05-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
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
05-
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
05-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
OU-seg/
q14.3/

mos/
1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
 
5q14.3 to 5q23.1 (in 12% of PBL)
normal adult with gastrointestinal cancer
{1083}
case in Tab 3


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
05-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
05-
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
05-
WU-N/

1-1
male and female
3y
PBL
n.a.
twins

Laron dwarfism (gene GHR in 5p13.1~12)
{828} 1 case
05-
WU-N/
2-1

n.a.
prenatal fibroblasts
n.a.
abortion
{1042} case C-452
05-
WU-N/
3-1

n.a.
prenatal trophectoderm biopsies
n.a.
n.a.
{1131}
05-
WU-N/
4-1 to 5-1
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
05-
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
05-
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
05-
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
05-
WU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
05-
WU-seg/
pter/
mos/

1-1
n.a.
prenatal
CH n.a.
---
5pter to 5p13.2
36.85
Mb [hg19]
50% mos
prenatal anxiety {1363} case 20


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
05-
WU-imb/
1-1

male
prenatal
AF
47,XY,+5[5]/46,XY[10]
in PBL no +5

sonographic abnormalities; postnatal DD and DYS
{1009}
05-
WU-imb/
1-2

female
prenatal
AF
47,XX,+5/46,XX
in skin +5 in all cells

sonographic abnormalities; TOP
{1028}
05-
WU-imb/
1-3

n.a.
1.5y
PBL
aCGH x3: 5q31.2-5q31.3
iUPD: 5q31.3-5qter

n.a.
{1363} case 45

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
05-
WU-imb/
mos/
1-1

- - - - - -