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Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.
[wolf-hirschhorn syndrome]
Chromosomal
rearrangements
in
the
short
arm
of
chromosome
4
can
result
in
2
different
clinical
entities
:
Wolf-
Hirschhorn
syndrome
(
WHS
)
,
characterized
by
severe
growth
delay
,
mental
retardation
,
microcephaly
,
'
Greek
helmet
'
facies
,
and
closure
defects
,
or
partial
4
p
trisomy
,
associated
with
multiple
congenital
anomalies
,
mental
retardation
,
and
facial
dysmorphisms
.
We
present
clinical
and
laboratory
findings
in
a
patient
who
showed
a
small
duplication
in
4
p
16
.
3
associated
with
a
subtle
terminal
deletion
in
the
same
chromosomal
region
.
GTG-banding
analyses
,
multiplex
ligation-dependent
probe
amplification
analyses
,
and
studies
by
array-based
comparative
genomic
hybridization
were
performed
.
The
results
of
the
analyses
revealed
a
de
novo
1
.
3
Mb
deletion
of
the
terminal
4
p
and
a
1
.
1
Mb
duplication
in
our
patient
,
encompassing
the
WHS
critical
region
.
Interestingly
,
this
unusual
duplication
/
deletion
rearrangement
results
in
an
intermediate
phenotype
that
shares
characteristics
of
the
WHS
and
the
4
p
trisomy
syndrome
.
The
use
of
novel
technologies
in
the
genetic
diagnosis
leads
to
the
description
of
new
clinical
syndromes
;
there
is
a
growing
list
of
microduplication
syndromes
.
Therefore
,
we
propose
that
overexpression
of
candidate
genes
in
WHS
(
WHSC
1
,
WHSC
2
and
LETM
1
)
due
to
a
duplication
causes
a
clinical
entity
different
to
both
the
WHS
and
4
p
trisomy
syndrome
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated