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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
)
.