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ChromosOmics - Database
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CHROMOSOME 19 -
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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.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
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clinical symptoms
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reference
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19-
OU-N/
1-1
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female
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prenatal
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AF
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46,XX
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normal child born and normal at
1y
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{1309}
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mosaic cases
case no.
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gender
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age at
diagnosis
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studied
material
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GTG-banding
result
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clinical
symptoms
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reference
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19-
OU-N/
mos/
1-1 |
- |
- |
- |
- |
- |
- |
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mat or pat UPD-cases without
clinical findings + balanced karyotype |
case no.
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gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
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reference
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19-
OU-bal/
1-1
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- |
- |
- |
- |
- |
- |
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mat or pat UPD-cases without
clinical findings + sSMC
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case no.
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case no. in
sSMC database
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gender/
age at diagnosis
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studied
material
|
GTG-banding
result
|
final FISH
result of the sSMC
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FISH
methods
|
clinical
symptoms
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reference
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19-
OU-sSMC/
1-1
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- |
- |
- |
- |
- |
- |
- |
- |
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segmental
mat or pat UPD-cases without clinical findings
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case no.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
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clinical symptoms
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reference
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19-
OU-seg/
/
1-1
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- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
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studied
material
|
GTG-banding
result
|
clinical
symptoms
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reference
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19-
OU-seg/
pter/
mos/
1-1
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n.a.
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adult
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PBL
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n.a.; acc. to
array no imbalance in PBL
---
19q13.31 to
19qter (in 21% of PBL)
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normal adult
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{545} case
670
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mat or pat UPD-cases without clinical findings +
other imbalances |
case no.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
|
clinical symptoms
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reference
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19-
OU-imb/
1-1
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- |
- |
- |
- |
- |
- |
mosaic cases
case no.
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gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
19-
OU-imb/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
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mat
or pat UPD-cases with or unclear clinical
correlation + normal karyotype |
case no.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
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clinical symptoms
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reference
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19-
WU-N/
1-1
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n.a.
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prenatal/
abortion
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CVS
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n.a.
(aCGH normal)
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n.a.
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{1103}
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19-
WU-N/
2-1a
and 2-1b
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n.a.
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postnatal
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PBL
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n.a.
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Developmental
delay, hypotonia (twins)
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{1213}
case N11 and N12
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mosaic cases
case no.
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gender
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age at
diagnosis
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studied
material
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GTG-banding
result
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clinical
symptoms
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reference
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19-
WU-N/
mos/
1-1
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-
|
- |
- |
- |
- |
- |
|
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
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19-
WU-bal/
1-1 |
-
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-
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-
|
-
|
-
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-
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mat
or pat UPD-cases with or unclear clinical findings +
sSMC
|
case no.
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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
|
19-
WU-sSMC/
1-1
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- |
- |
- |
- |
- |
- |
- |
- |
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segmental
mat or pat UPD-cases with or unclear clinical
correlation
|
case no.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
|
clinical symptoms
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reference
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19-
WU-seg/
q12/
1-1
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male |
postnatal |
PBL |
n.a.
---
19q12 to 19qter
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abnormal muscle tone |
{1559} case 13
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mosaic cases
case no.
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gender
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age at
diagnosis
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studied
material
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GTG-banding
result
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clinical
symptoms
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reference
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19-
WU-seg/
q13.2/
2 seg/
mos/
1-1
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n.a.
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35y
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PBL
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n.a.
---
19q13.2 to 19q13.2
19q13.2 to
19qter size
overall 20.11 Mb [hg19]
25 and 37% mos
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progressive
progeria like symptoms |
{1363} case
34
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mat
or pat UPD-cases with or unclear clinical
correlation + other imbalances |
case no.
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gender
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age at diagnosis
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studied
material
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GTG-banding result
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clinical symptoms
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reference
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19-
WU-imb/
1-1
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n.a.
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n.a.
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PBL
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n.a.
acc. to aCGH 4 copies of 16p13.11
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most likely
DYS, and MR
size of UPD unclear
no gene identified
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{828} 1
case
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mosaic cases
case no.
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gender
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age at
diagnosis
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studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
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19-
WU-imb/
mos/
1-1 |
- |
- |
- |
- |
- |
- |
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