ChromosOmics - Database

                                                     - CHROMOSOME 4 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 4

UPD unclear if maternal or paternal
 CHR . 4
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



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
04-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
OpU-N/
mos/

1-1
- - - - - -


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
04-
OpU-bal/
1-1

- - - - - -


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
04-
OpU-sSMC/
1-1

- - - - - - - -


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
OpU-seg/
/
mos/

1-1
- - - - - -


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
04-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
OpU-imb/
mos/

1-1

- - - - - -


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
O4-
WpU-N/
1-1
male
newborn
PBL
46,XY
prenatal: polyhydramnions, renal anomalies; postnatal: renal anomalies, DYS, retard. psychomotor development - gene not identifed
{573} case 29
O4-
WpU-N/
2-1

female
newborn
PBL
n.a.
mild variant phenotype of maple syrup urine disease (gene PPM1K in 4q22.1)
{714}
O4-
WpU-N/
3-1

female
4 years
PBL
46,XX
autism spectrum isorder, has a Chiari I malformation/ spinal dimple
(gene
FAT4 in 4q28.1 - most likely not disease causing)
{0} provided by family
O4-
WpU-N/
4-1 to 4-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
O4-
WpU-N/
5-1

n.a.
postnatal
PBL
n.a.
Severe Iintellectal, developmental and speech delay,
epilepsy (iUPD - no gene identified)

{1213} case N4

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
O4-
WpU-N/
mos/

1-1
- - - - - -


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
04-
WpU-bal/
1-1
-
-
-
-
-
-


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
04-
WpU-sSMC/
1-1

- - - - - - - -


segmental 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
04-
WpU-seg/
pter/

1-1
n.a.
postnatal
PBL
n.a.
---
4p16
Wolfram syndrome 1
(gene
WFS1 in 4p16.1)
hUPD plus new mutation

{719}
04-
WpU-seg/
q32.3/

1-1
n.a.
postnatal
PBL
n.a.
---
4q32.3 to 4q35.1
recessive limb-girdle muscular dystrophy-18 (gene TRAPPC11 in 4q35.1)
{1370}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
WpU-seg/
/
mos/

1-1
n.a.
- - - - -


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
04-
WpU-imb/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
WpU-imb/
mos/
1-1

- - - - - -