ChromosOmics - Database

                                                     - CHROMOSOME 13 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 13

UPD 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 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
13-
OU-N/
1-2

n.a.
adult
PBL
n.a.
most likely normal, maybe schizophrenia
{912} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
OU-
N/
mos/
1-1

n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
whole chromosome UPD 13 in 18% of the cells
normal adult with bladder cancer
{545} case 234


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
13-
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
-
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
13-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
OU-seg/
q12.1/
mos/

1-1
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
13-
OU-seg/
q12.3/
mos/

1-1
n.a.
5.3y
PBL
n.a.; acc. to array no imbalance in PBL
---
13q12.3 to 13qter (in 20% of PBL)
29.58 Mb [hg19]
normal with ASD {1363} case 26


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
13-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
WU-N/

1-1
female 2y PBL n.a.
also UPD 7
see 
07-WU-N/
1-1
DD, MR, dyslalia, ataxia
{1080} p16

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
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
13-
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
13-
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
13-
WU-seg/
q12.11/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
WU-seg/
q12.11/
mos/

1-1
n.a.
5y
PBL n.a.
---
13q12.11 to 13qter
20.27
Mb [hg19]
35% mos
different abnomalies {1363} case 27


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
13-
WU-imb/
1-1
male
6m
PBL
n.a. acc. to aCGH One copy number loss at
5p15.2

Bare lymphocyte
syndrome, type II,
complementation
group D (gene
RFXAP in 13q13.3)
{828} 1 case
13-
WU-imb/
2-1
n.a.
n.a.
PBL
n.a.
copy number variant or 4 copies in 8pter (aCGH)

most likely dymorphic and MR
size of UPD unclear
no gene identified

{828; 1170} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
13-
WU-imb/
mos/

2-1
- - - - - -