ChromosOmics - Database

                                                     - CHROMOSOME 3 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 3

UPD PATERNAL
 CHR . 3
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
03-
OU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
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
03-
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
03-
OU-
seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
OU-
seg/
pter/
mos/

1-1
n.a.
adult
PBL
n.a.; acc. to array no imbalance in PBL
---
3pter to 3p21.33 (in 18% of PBL)
normal adult with bladder cancer
{545} case 155


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
03-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
WU-N/

1-1
female
15y
PBL
n.a.
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (gene SLC25A38 in 3p22.1)
{841} case 493
03-
WU-N/
2-1 to 2-2

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
03-
WU-N/
3-1

female
prenatal
AF
46,XX
Hyperechogenic bowel
{1289} case 2
03-
WU-N/
4-1 to 8-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 5 cases
03-
WU-N/
9-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene ADCY5 in
3q21.1 )
{1300} 1 case
03-
WU-N/
10-1
n.a.
postnatal PBL
46,XN neurodev. disorder
(gene MASP1 in 3q27.3
)
{1300} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
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
03-
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
03-
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
03-
WU-seg/
p21.31/
2-1

n.a.
postnatal
PBL
n.a.
---
i(UPD) in 3p21.31 to 3p21.1
no gene identified

clinically abnormal
{947} case 84

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
WU-seg/
pter/
mos/
1-1

n.a.
prenatal
AF n.a.
---
3pter to 3p24.3
23.46
Mb [hg19]
30% mos
different sonograph. abnomalies {1363} case 19


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
03-
WU-imb/
1-1

n.a.
5y
PBL
aCGH x3: 3p25.1-3p24.1
iUPD 3pter-3p25.1

DD
{1363} case 42
03-
WU-imb/
2-1
male
n.a.
cell line from PBL Coriell GM11419
49,XYYYY
---
3p21.31 to 3p21.1
MR and multiple symptoms
{907}
1 case


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
03-
WU-imb/
mos/
1-1
- - - - - -