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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
We
report
on
a
21
-
year
old
woman
with
intellectual
disability
,
autistic
features
,
severe
obesity
,
and
facial
dysmorphisms
suggestive
of
Wolf-
Hirschhorn
syndrome
(
WHS
)
.
Array-
CGH
analysis
showed
a
2
.
89
Mb
deletion
on
chromosome
14
q
11
.
2
containing
47
known
genes
.
The
most
interesting
genes
included
in
this
deletion
are
CHD
8
,
a
chromodomain
helicase
DNA
binding
protein
that
is
associated
with
autism
spectrum
disorders
,
and
MMP
14
,
a
matrix
metalloproteinase
that
has
been
linked
to
obesity
and
type
2
diabetes
.
This
report
shows
that
14
q
11
.
2
microdeletions
can
mimic
WHS
and
suggests
that
gene
(
s
)
in
the
deleted
interval
that
may
be
responsible
for
a
phenocopy
of
WHS
.