Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.
[congenital diaphragmatic hernia]
We
report
a
12
-
year
-old
boy
referred
to
the
Clinical
Genetics
service
in
view
of
facial
dysmorphism
,
learning
difficulties
and
autistic
spectrum
disorder
.
60
K
arrayCGH
revealed
an
8
.
2
-
Mb
duplication
on
chromosome
13
q
31
.
3
q
32
.
3
,
which
was
paternally
inherited
.
This
specific
duplication
on
chromosome
13
has
not
been
previously
reported
in
the
medical
literature
,
and
there
are
no
familial
or
de
novo
patients
with
the
same
duplication
breakpoints
.
This
region
contains
24
OMIM
genes
,
including
the
glypicans
GPC
5
and
GPC
6
,
and
the
ZIC
2
gene
.
We
discuss
the
relevance
of
this
chromosome
imbalance
and
discuss
the
impact
of
this
duplication
on
our
patient
's
phenotype
.
Given
that
the
duplication
on
13
q
was
paternally
inherited
,
and
although
initially
thought
to
be
of
uncertain
significance
,
on
exploring
the
family
history
further
,
it
became
apparent
that
the
father
had
learning
difficulties
as
a
child
and
previous
surgery
for
congenital
diaphragmatic
hernia
.
Here
we
explore
the
phenotype
in
association
with
this
novel
duplication
on
chromosome
13
q
and
add
to
the
existing
literature
on
array
findings
within
this
region
.
