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Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
disorder
that
affects
many
parts
of
the
body
.
The
major
features
of
this
condition
include
specific
craniofacial
malformations
,
delayed
growth
and
development
,
intellectual
disability
and
seizures
.
Here
,
we
report
a
case
of
WHS
:
a
27
-
month
-old
girl
with
a
microdeletion
at
distal
part
of
short
arm
of
chromosome
4
.
She
had
striking
clinical
features
of
WHS
and
had
an
apparently
normal
karyotype
.
Array
comparative
genomic
hybridization
performed
on
the
DNA
extracted
from
peripheral
blood
revealed
loss
of
1
.
7
Mb
at
4
q
16
.
3
-
q
15
.
3
.
Taken
together
,
this
data
suggests
that
a
patient
with
strong
clinical
suspicion
of
chromosome
abnormality
and
normal
conventional
karyotype
analysis
should
be
further
evaluated
by
molecular
cytogenetic
techniques
such
as
array
comparative
genomic
hybridization
(
aCGH
)
or
fluorescence
in
situ
hybridization
(
FISH
)
.
Diseases
Validation
Diseases presenting
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated