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ChromosOmics
- Database
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- CHROMOSOME #17 -
NEOCENTRIC
|
In general 70%
of sSMC carriers are clinically
normal. The figures listed above
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
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Cases with neocentromeres (N)
|
case no.
|
gender/
age at diagnosis
|
studied
material
|
de novo/
inherited
|
GTG-banding
result
grade of mosaicism
|
final
result of the sSMC
|
test
methods
|
clinical
symptoms
|
Reference
|
17-
N-
qt22/
1-1
|
see
PsMcCl-17-O-q22/1-1 |
-
|
-
|
-
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-
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-
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-
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-
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-
|
-
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Cases with neocentromeres (N)
- TUMOR |
case no.
|
gender/
age at diagnosis
|
studied
material
|
de novo/
inherited
|
GTG-banding
result
grade of mosaicism
|
final
result of the sSMC
|
test
methods
|
clinical
symptoms
|
Reference
|
17-
N-
p or q/
1-1 |
-
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
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N-Cases with similar
imbalances NOT caused by sSMC (N-IMB): |
case no.
|
gender/
age at diagnosis
|
studied
material
|
de novo/
inherited
|
GTG-banding
and final FISH result
|
test
methods
|
clinical
symptoms
|
Reference
|
17-
N-
IMB-
pter/
1-1
to mult
|
11 case with
trisomy 17p are summarized in Ref {31} -
(4 in ref {37}) see also {44} |
{31, see also 37 and 40,
41}
|
17-
N-
IMB-
q23/
1-1
to mult
|
see {46} |
{46}
|
-
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-
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-
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-
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-
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-
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-
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-
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