Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
We
report
on
a
4
-
year
-old
girl
who
presented
with
microcephaly
,
multiple
minor
anomalies
of
face
and
limbs
,
congenital
heart
defect
,
hypotonia
,
neuropsychomotor
delay
,
deafness
and
seizures
.
A
GTG-banded
karyotype
identified
an
additional
fragment
of
unknown
origin
on
the
terminal
region
of
4
p
.
Parental
karyotypes
were
normal
.
FISH
analysis
using
a
whole
chromosome
paint
probe
for
chromosome
4
and
subtelomere
probes
showed
a
signal
on
the
entire
add
(
4
)
chromosome
and
loss
of
the
4
p
subtelomere
region
,
respectively
.
Additional
analysis
using
microsatellite
markers
for
chromosome
4
and
whole-genome
array
comparative
genomic
hybridization
(
array-
CGH
)
identified
a
duplication
of
the
region
4
p
13
-
-
>
4
p
16
.
3
.
Her
karyotype
was
thus
interpreted
as
an
inverted
duplication
with
terminal
deletion
of
4
p
:
46
,
XX
,
der
(
4
)
(
:
p
13
-
-
>
p
16
.
3
:
:
p
16
.
3
-
-
>
qter
)
.
The
clinical
features
of
our
patient
differed
from
those
typically
observed
in
Wolf-
Hirschhorn
syndrome
and
were
more
compatible
with
duplication
4
(
p
14
-
-
>
p
16
.
3
)
,
with
preservation
of
the
WHS
critical
region
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
