Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.
[monosomy 21]
We
compared
the
phenotypes
,
karyotypes
,
and
molecular
data
for
six
cases
of
partial
monosomy
21
.
Regions
of
chromosome
21
,
the
deletion
of
which
corresponds
to
particular
features
of
monosomy
21
,
were
thereby
defined
.
Five
such
regions
were
identified
for
21
features
.
Ten
of
the
features
could
be
assigned
to
the
region
flanked
by
genes
APP
and
SOD
1
:
six
facial
features
,
transverse
palmar
crease
,
arthrogryposis
-like
symptoms
,
hypertonia
,
and
contribution
to
mental
retardation
.
This
region
,
covering
the
interface
of
bands
21
q
21
-
21
q
22
.
1
,
is
4
.
7
-
6
.
4
Mb
long
and
contains
the
gene
encoding
the
glutamate
receptor
subunit
GluR
5
(
GRIK
1
)
.
Diseases
Validation
Diseases presenting
"transverse palmar crease"
symptom
monosomy 21
This symptom has already been validated