Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.
[cohen syndrome]
We
have
developed
an
integrated
map
for
a
35
-
cM
area
of
human
chromosome
8
surrounding
the
Langer-
Giedion
syndrome
deletion
region
.
This
map
spans
from
approximately
8
q
22
to
8
q
24
and
includes
10
hybrid
cell
intervals
,
89
polymorphic
STSs
,
118
ESTs
,
and
37
known
genes
or
inferred
gene
homologies
.
The
map
locations
of
25
genes
including
osteoprotegerin
,
syndecan-
2
,
and
autotaxin
have
been
refined
from
the
general
locations
previously
reported
.
In
addition
,
the
map
has
been
used
to
indicate
the
location
of
nine
deletions
in
patients
with
Langer-
Giedion
syndrome
and
trichorhinophalangeal
syndrome
type
I
to
demonstrate
the
potential
usefulness
of
the
map
in
the
analysis
of
these
complex
syndromes
.
The
map
will
also
be
of
interest
to
anyone
trying
to
clone
positionally
disease
genes
in
this
region
,
such
as
Cohen
syndrome
(
8
q
22
-
q
23
)
,
Klip-
Feil
syndrome
(
8
q
22
.
2
)
,
hereditary
spastic
paraplegia
(
8
q
24
)
,
and
benign
adult
familial
myoclonic
epilepsy
(
8
q
23
.
3
-
q
24
.
1
)
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated