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
11
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schematic
cytogenetic
depiction |
short (= p-) arm |
het |
long (= q-) arm |
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p14 |
p13 |
p12 |
p11 |
cen |
q12 |
q13 |
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no clinical
signs
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clinical
signs |
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schematic
molecular-
cytogenetic
depiction
|
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 |
42.88 |
48.26 |
51.40 - 56.40 |
60.23 |
78.05 |
GRCh
37/ hg19 |
42.92 |
48.30 |
51.60 - 55.70 |
60.47 |
79.07 |
GRCh
38/ hg38 |
42.90 |
48.28 |
51.00
- 53.40 |
60.71 |
79.36
|
Positions
given in megabasepair (Mbp)
acc. to cases marked as
***
Acc.
to {47}
triplosensitive regions
start between postions
(hg19) of 45,048,321 to
47,675,469 and 60,516,539
to 61,479,322,
respectively
|