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ChromosOmics - Database
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CHROMOSOME 5 -
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maternal UPD -
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mat UPD-cases
without clinical findings + normal karyotype
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case no.
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gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
OmU-N/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
05-
OmU-N/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat UPD-cases without clinical
findings + balanced karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
OmU-bal/
1-1
|
- |
- |
- |
- |
- |
- |
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mat UPD-cases without 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
|
05-
OmU-sSMC/
1-1
|
- |
- |
- |
- |
- |
- |
- |
- |
|
segmental
mat UPD-cases without clinical findings
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
OmU-seg/
/
1-1
|
-
|
-
|
-
|
- |
-
|
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
05-
OmU-seg/
/
mos/
1-1
|
-
|
-
|
-
|
- |
-
|
- |
|
mat UPD-cases without clinical findings + other
imbalances |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
OmU-imb/
1-1
|
- |
- |
- |
- |
- |
- |
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
05-
OmU-imb/
mos/
1-1
|
- |
- |
- |
- |
- |
- |
|
mat
UPD-cases with or unclear clinical correlation +
normal karyotype |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
WmU-N/
1-1
|
female
|
3y
|
PBL
|
n.a.
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Netherton
syndrome (gene SPINK5 in 5q32)
|
{444}
patient 2
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05-
WmU-N/
1-2
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female
|
10y
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PBL
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n.a.
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Netherton
syndrome (gene SPINK5 in 5q32)
|
{849}
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05-
WmU-N/
2-1
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female
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12y
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PBL
|
46,XX
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Stüve-Wiedemann
syndrome (gene LIFR in 5p13.1)
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{850}
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05-
WmU-N/
3-1
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male
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4y
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PBL
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n.a.
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Congenital
sodium diarrhea = CSD (gene SLC9A3 in 5p15.33)
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{922}
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05-
WmU-N/
4-1
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n.a.
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n.a.
|
n.a.
|
n.a.
|
n.a.
|
{982}
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05-
WmU-N/
5-1
|
female
|
newborn
|
PBL
|
n.a.
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recurrent
diarrhea (gene PCSK1 in 5q15)
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{1361}
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mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
05-
WmU-N/
mos/
1-1
|
-
|
-
|
-
|
-
|
-
|
-
|
|
mat
UPD-cases with or unclear clinical correlation+
balanced karyotype
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
WmU-bal/
1-1 |
-
|
-
|
-
|
-
|
-
|
-
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|
mat
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
|
05-
WmU-sSMC/
1-1
|
05-O-
p13.1/
1-2
|
female/
prenatal
|
AF
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47,XX,+mar[7]/46,XX[43]
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min(5)(:p13.1→q11.1:)
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cenM;
subcenM
|
no
sonographic signs; AMA, child born;
no abnormalities reported; slight hip
dislocation |
{0}
provided by Dr. Schulze, Hannover,
Germany
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|
segmental
mat UPD-cases with or unclear clinical correlation
|
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
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05-
WmU-seg/
pter/
1-1
|
n.a.
|
51y
|
PBL
|
n.a.
---
5pter to 5p15.1;
16.44 Mb
[hg19] |
MR,
heart problems
|
{1363} case 7
|
mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
05-
WmU-seg/
/
mos/
1-1
|
-
|
-
|
-
|
-
|
-
|
-
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mat
UPD-cases with or unclear clinical correlation +
other imbalances |
case no.
|
gender
|
age at diagnosis
|
studied
material
|
GTG-banding result
|
clinical symptoms
|
reference
|
05-
WmU-imb/
1-1
|
male |
prenatal |
CVS/
PBL
|
47,XY,+21[98]/
48,XY,+5,+21[25]
after
birth no +5 clone
|
Down-syndrome |
{1258} |
05-
WmU-imb/
2-1
|
n.a. |
prenatal |
AF
|
+5
acc. to NIPT
|
DYS |
{1604} case 29 in App. 2
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mosaic cases
case no.
|
gender
|
age at
diagnosis
|
studied
material
|
GTG-banding
result
|
clinical
symptoms
|
reference
|
05-
WmU-imb/
mos/
1-1 |
-
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-
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-
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-
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-
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-
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