ChromosOmics - Database

                                                     - CHROMOSOME 10 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 10

UPD unclear if maternal or paternal
 CHR . 10
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
10-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
10-
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
10-
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
10-
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
10-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
10-
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
10-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
10-
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
10-
WpU-N/
1-1
n.a.
postnatal
PBL
n.a.
presymptomatic for multiple endocrine neoplasia type 2A (gene RET in 10q11.21)
{481}
10-
WpU-N/
3-1
male
6m
PBL
n.a.
infantile parkinsonism-dystonia-2 (gene SLC18A2 in 10q25.3)
{1320}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
10-
WpU-N/
mos/

1-1
male
prenatal
AF
46,XY
UPD in 56% of cells

fetal macrocephaly; TOP (gene PTEN10 in 10q22-23)
{1286}


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
10-
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
10-
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
10-
WpU-seg-
/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
10-
WpU-seg-
/
mos/
1-1
- - - - - -


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
10-
WpU-imb/
1-1

n.a.
postnatal
PBL
n.a.
---
duplication and triplication in 10q26.13 and UPD

n.a.
{908}
case BAB4539


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
10-
WpU-imb/
mos/
1-1
- - - - - -