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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
"small deletions"
symptom
alpha-thalassemia
cadasil
erythropoietic protoporphyria
kabuki syndrome
oligodontia
wolf-hirschhorn syndrome
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