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
X-chromosome
|
schematic
cytogenetic
depiction |
short (= p-) arm |
het |
long (= q-) arm |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
p11.4 |
|
p11.2 |
cen |
|
|
q13 |
q21 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
no
clinical
signs
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
clinical
signs |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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 |
50.90 |
56.60 |
56.60 - 65.10 |
65.10 |
unknown |
GRCh
37/ hg19 |
50.88 |
56.58 |
58.10 - 64.60 |
64.60 |
unknown |
GRCh
38/ hg38 |
51.14 |
56.56 |
58.10
- 63.80 |
63.80 |
unknown |
Positions
given in megabasepair (Mbp)
acc.
to cases marked as *** |