Specific
PATIENTINFORMATION for sSMC(16) -
part 1
Specific
PATIENTINFORMATION
for sSMC(16) -
part 2
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!
the
probably non-dosage sensitive
pericentric region of chromosome
16
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schematic
cytogenetic
depiction |
short
(= p-) arm
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heterochromatin |
long
(= q-) arm
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p13 |
p12 |
p11.2 |
cen |
q11.2 |
q12 |
q13 |
q21 |
q22 |
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nono
clinical
signs
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clinical
signs |
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schematic
molecular-
cytogenetic
depiction
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Data is converted
between genome versions by
UCSC browser!
Note the changes
defined there for
centromere-sizes; due to that
and due to 'new insertions and
deletions', positions are not
always seeming logical
comparing different versions
listed
genomic
version
|
critical
region
p-arm |
uncritical
region
p-arm |
centromere |
uncritical
region
q-arm |
critical
region
q-arm |
NCBI
36/ hg18 |
? {55} |
28.73 |
34.40 - 45.50 |
46.02 |
46.16 |
GRCh
37/ hg19 |
? {55} |
28.82 +++
|
34.60 - 47.00 |
47.60 |
47.64 |
GRCh
38/ hg38 |
?
{55} |
28.81 |
35.30
- 47.00 |
47.43 |
47.57 |
Positions
given in megabasepair (Mbp)
acc. to cases marked as
***
+++ - acc to {60}
CNVs in the region
chr156[hg19]:21475060-29284077
or 30199854
may lead to DD
|