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ChromosOmics - Database
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CHROMOSOME 4 -
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unclear if maternal or paternal UPD -
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mat or pat
UPD-cases without clinical findings + normal karyotype
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case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
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clinical symptoms
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reference
|
04-
OU-N/
1-1 to 1-2
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n.a.
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adult
|
PBL
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n.a.
|
most likely
normal, maybe schizophrenia
|
{912} 2
cases
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mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
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
|
clinical symptoms
|
reference
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04-
OU-bal/
1-1
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- |
- |
- |
- |
- |
- |
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mat or pat UPD-cases without
clinical findings + sSMC
|
case no.
|
case no. in
sSMC database
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gender/
age at diagnosis
|
studied
material
|
GTG-banding
result
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
04-
OU-sSMC/
1-1
|
- |
- |
- |
- |
- |
- |
- |
- |
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segmental
mat or pat UPD-cases without clinical findings
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case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
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reference
|
04-
OU-seg/
/
1-1
|
-
|
-
|
-
|
- |
-
|
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
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
|
clinical symptoms
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reference
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04-
OU-imb/
1-1
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n.a.
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prenatal
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PBL
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47,XN,+4
acc. to NIPT
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normal child
born
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{1389} case 107
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04-
OU-imb/
2-1
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male
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prenatal
|
AF
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47,XYY
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normal child
born
|
{1578} case 10
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mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
04-
OU-imb/
mos/
1-1
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- |
- |
- |
- |
- |
- |
|
mat
or pat UPD-cases with or unclear clinical
correlation + normal karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
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reference
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04-
WU-N/
1-1
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n.a.
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n.a.
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n.a.
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n.a. |
n.a. |
{1170}
1 case
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04-
WU-N/
2-1
to 2-4
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n.a.
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postnatal
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PBL
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46,XN
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different
neurodev. disorders
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{1300}
4 cases
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04-
WU-N/
2-5
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n.a.
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postnatal |
PBL
|
n.a.
|
autism spectrum disorder
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{1450} 1 case |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
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
|
clinical symptoms
|
reference
|
04-
WU-bal/
1-1 |
-
|
-
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-
|
-
|
-
|
-
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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
|
final FISH
result of the sSMC
|
FISH
methods
|
clinical
symptoms
|
reference
|
04-
WU-sSMC/
1-1
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04-
U-12
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n.a./
n.a.
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PBL
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n..a
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mar(4)(p13q12)
hg19:44.45–57.26Mb
size of UPD unclear
no gene identified
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aCGH
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most likely
DYS and MR
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{828;
1170} 1 case
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segmental
mat or pat UPD-cases with or unclear clinical
correlation
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case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
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reference
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04-
WU-seg/
q21.23/
1-1
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n.a.
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postnatal
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PBL
|
n.a.
---
i(UPD) in 4q21.23 to 4q22.1
no gene identified
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clinically
abnormal
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{947}
case 43
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mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
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
|
clinical symptoms
|
reference
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04-
WU-imb/
1-1
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female
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13y
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PBL
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46,X,der(X)t(X;4)
(p22.33;q24)
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scoliosis,
hepatomegaly, chronic lymphocytic
thyroiditis, oliguria, anuria
iUPD - no gene identified
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{848}
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04-
WU-imb/
2-1
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n.a.
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newborn
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PBL
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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
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n.a.
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{858}
case 128
{1363} case 43 |
04-
WU-imb/
3-1
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n.a.
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35y
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PBL
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aCGH x3:
4q31.21-4q32.1
iUPD: 4q31.21-4qter
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inteleectual
disability
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{1363} case 44 |
04-
WU-imb/
4-1
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n.a.
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prenatal
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PBL
|
46,XN,+4
acc. to NIPT
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TOP
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{1389} case 105
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mosaic cases
case no.
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gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
04-
WU-imb/
mos/
1-1
|
-
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-
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-
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-
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-
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