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Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.
[wolf-hirschhorn syndrome]
The
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
multiple
malformation
and
contiguous
gene
syndrome
resulting
from
the
deletion
encompassing
a
4
p
16
.
3
region
.
A
microscopically
visible
terminal
deletion
on
chromosome
4
p
(
4
p
16
→
pter
)
was
detected
in
Case
1
with
full
blown
features
of
WHS
.
The
second
case
which
had
an
interstitial
microdeletion
encompassing
WHSC
1
and
WHSC
2
genes
at
4
p
16
.
3
presented
with
less
striking
clinical
features
of
WHS
and
had
an
apparently
"
normal
"
karyotype
.
The
severity
of
the
clinical
presentation
was
as
a
result
of
haploinsufficiency
and
interaction
with
surrounding
genes
as
well
as
mutations
in
modifier
genes
located
outside
the
WHSCR
regions
.
The
study
emphasized
that
an
individual
with
a
strong
clinical
suspicion
of
chromosomal
abnormality
and
a
normal
conventional
cytogenetic
study
should
be
further
investigated
using
molecular
cytogenetic
techniques
such
as
fluorescence
in
situ
hybridization
(
FISH
)
or
array-comparative
genomic
hybridization
(
a-
CGH
)
.