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How to diagnose the 22q11.2 deletion syndrome in patients with schizophrenia: a case report.
[22q11.2 deletion syndrome]
The
22
q
11
.
2
deletion
syndrome
is
caused
by
a
microdeletion
of
chromosome
22
.
One
third
of
all
patients
with
22
q
11
.
2
deletion
develop
schizophrenia
-like
symptoms
.
In
general
,
the
prevalence
of
22
q
11
.
2
deletion
in
patients
with
schizophrenia
is
1
%
-
2
%
.
The
22
q
11
.
2
deletion
is
one
of
the
major
known
genetic
risk
factors
for
schizophrenia
.
However
,
clinical
differences
in
the
phenotypes
between
patients
with
schizophrenia
who
are
22
q
11
.
2
deletion
carriers
and
those
who
are
not
are
still
unknown
.
Therefore
,
it
may
be
difficult
to
diagnose
22
q
11
.
2
deletion
in
patients
with
schizophrenia
on
the
basis
of
clinical
symptoms
.
To
date
,
only
two
Japanese
patients
with
the
deletion
have
been
identified
through
microdeletion
studies
of
patients
with
schizophrenia
in
the
Japanese
population
.
Herein
,
we
report
the
case
study
of
a
48
-
year
-old
Japanese
woman
with
22
q
11
.
2
deletion
who
had
a
30
-
year
history
of
schizophrenia
.
Based
on
craniofacial
anomalies
,
unpredictable
agitation
,
hypocalcemia
,
and
brain
imaging
finding
,
we
suspected
the
22
q
11
.
2
deletion
in
clinical
populations
and
diagnosed
the
deletion
using
fluorescence
in
situ
hybridization
analysis
.
To
find
common
phenotypes
in
Japanese
patients
with
the
deletion
who
have
schizophrenia
-like
symptoms
,
we
compared
phenotypes
among
three
Japanese
cases
.
The
common
phenotypes
were
an
absence
of
congenital
cardiovascular
anomalies
and
the
presence
of
current
findings
of
low
intellectual
ability
,
agitation
,
and
hypocalcemia
.
We
propose
that
hypocalcemia
and
agitation
in
patients
with
schizophrenia
may
derive
from
the
22
q
11
.
2
deletion
,
particularly
when
these
phenotypes
are
coupled
with
schizophrenia
-like
symptoms
.
Diseases
Validation
Diseases presenting
"common phenotypes in japanese patients with the deletion"
symptom
22q11.2 deletion syndrome
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