ChromosOmics - Database

                                                     - CHROMOSOME 13 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 13

UPD unclear if maternal or paternal
 CHR . 13
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotype

UPD-cases without clinical findings
+ balanced karotype
UPD-cases with or unclear clinical
correlation
+ balanced karotype
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
13-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
OpU-bal/
1-1

female
prenatal
PBL
45,XX,der(13;13)(q10;q10)dn
normal child born
{96} case 1, {97}
13-
OpU-bal/
1-2

female
adult
PBL
45,XX,der(13;13)(p11.2;p11.2)pat
normal female
{327}
13-
OpU-bal/
1-3

male
prenatal
AF, PBL
45,XY,der(13;13)(q10;q10)de novo
normal male
{416}


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
13-
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
13-
OpU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
OpU-imb/
1-1
female
prenatal
AF, CH
CH: 46,XX,+13,der(13;13)(q10;q10)
AF: 45,XX,der(13;13)(q10;q10)
none, apart from length <10th centile
{332}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
WpU-N/
1-1
male
4y
PBL
n.a.
autosomal dominant 3A deafness (gene GJB2 in 13q12.11)
{390}
13-
WpU-N/
2-1
female
35y
PBL
n.a.
Spastic ataxia, Charlevoix-Saguenay type (gene SACS in 13q12.12)
{557}
13-
WpU-N/
3-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
WpU-bal/
1-1
female
postnatal
PBL
45,XX,der(13;13)(q10;q10)
Childhood-onset schizophrenia, ADHD, and motor tic disorder
{658}


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
13-
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
13-
WpU-
seg/
q14.2/

1-1
male
n.a.
PBL
n.a.
---
13q14.2 to 13q34
Wilsons disease (gene ATP7B in 13q14.3)
{736} 1 case
13-
WpU-
seg/
q14.3/

1-1
male
6.5y
PBL
45,XY,der(13;15)(q10;q10)
---
besides pat UPD 15 also pat UPD 13q14.3
Angelman syndrome not related to UPD(13)pat
{357}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
WpU-imb/
1-1

n.a.
prenatal
AF
46,+13,der(13;13)(q10;q10)pat[2]
n.a.
{852}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
WpU-imb/
mos/
1-1

- - - - - -