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Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
contiguous
gene
deletion
syndrome
of
the
distal
4
p
chromosome
,
characterized
by
craniofacial
features
,
growth
impairment
,
intellectual
disability
,
and
seizures
.
Although
genotype-phenotype
correlation
studies
have
previously
been
published
,
several
important
issues
remain
to
be
elucidated
including
seizure
severity
.
We
present
detailed
clinical
and
molecular-cytogenetic
findings
from
a
microarray
and
fluorescence
in
situ
hybridization
(
FISH
)
-
based
genotype-phenotype
analysis
of
22
Japanese
WHS
patients
,
the
first
large
non-
Western
series
.
4
p
deletions
were
terminal
in
20
patients
and
interstitial
in
two
,
with
deletion
sizes
ranging
from
2
.
06
to
29
.
42
Mb
.
The
new
Wolf-
Hirschhorn
syndrome
critical
region
(
WHSCR
2
)
was
deleted
in
all
cases
,
and
duplication
of
other
chromosomal
regions
occurred
in
four
.
Complex
mosaicism
was
identified
in
two
cases
:
two
different
4
p
terminal
deletions
;
a
simple
4
p
terminal
deletion
and
an
unbalanced
translocation
with
the
same
4
p
breakpoint
.
Seizures
began
in
infancy
in
33
%
(
2
/
6
)
of
cases
with
small
(
<
6
Mb
)
deletions
and
in
86
%
(
12
/
14
)
of
cases
with
larger
deletions
(
>
6
Mb
)
.
Status
epilepticus
occurred
in
17
%
(
1
/
6
)
with
small
deletions
and
in
87
%
(
13
/
15
)
with
larger
deletions
.
Renal
hypoplasia
or
dysplasia
and
structural
ocular
anomalies
were
more
prevalent
in
those
with
larger
deletions
.
A
new
susceptible
region
for
seizure
occurrence
is
suggested
between
0
.
76
and
1
.
3
Mb
from
4
pter
,
encompassing
CTBP
1
and
CPLX
1
,
and
distal
to
the
previously-supposed
candidate
gene
LETM
1
.
The
usefulness
of
bromide
therapy
for
seizures
and
additional
clinical
features
including
hypercholesterolemia
are
also
described
.
Diseases
Validation
Diseases presenting
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated