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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated