ChromosOmics - Database

                                                     - CHROMOSOME 4 -                                                    
- unclear if maternal or paternal UPD -

UPD MATERNAL
 CHR . 4

UPD 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


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
04-
OU-
N/
1-1 to 1-2

n.a.
adult
PBL
n.a.
most likely normal, maybe schizophrenia
{912} 2 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
 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
04-
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
04-
OU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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

1-1
- - - - - -


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
04-
OU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
WU-N/

1-1
n.a.
n.a.
n.a.
n.a. n.a.  {1170} 1 case
04-
WU-N/
2-1 to 5-1
n.a.
postnatal PBL
46,XN
different neurodev. disorders {1300} 4 cases

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
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
04-
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
04-
WU-sSMC/
1-1
04-
U-12

n.a./
n.a.

PBL
n..a
mar(4)(p13q12)
hg19:44.45–57.26Mb
size of UPD unclear
no gene identified

aCGH
most likely DYS and MR
{828; 1170} 1 case


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
04-
WU-seg/
q21.23/
1-1

n.a.
postnatal
PBL
n.a.
---
i(UPD) in 4q21.23 to 4q22.1
no gene identified

clinically abnormal
{947} case 43

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
WU-seg/
/
mos/
1-1

- - - - - -


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
04-
WU-imb/

1-1
female
13y
PBL
46,X,der(X)t(X;4)
(p22.33;q24)

scoliosis, hepatomegaly, chronic lymphocytic thyroiditis, oliguria, anuria
iUPD - no gene identified

{848}
04-
WU-imb/
2-1

n.a.
newborn
PBL
46,XN,der(4)(pter→p14:
:p15.2→qter)
in aCGH dup:
26.38-39.75 Mb
UPD(4)seg: 4pter→4p14
in aCGH: 0-26.38 Mb

n.a.
{858} case 128
{1363} case 43
04-
WU-imb/
3-1

n.a.
35y
PBL
aCGH x3: 4q31.21-4q32.1
iUPD: 4q31.21-4qter

inteleectual disability
{1363} case 44

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
04-
WU-imb/
mos/

1-1
-
-
-
-
-
-