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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
"a duplication causes a clinical entity different to both the whs"
symptom
wolf-hirschhorn syndrome
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