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Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome.
[wolf-hirschhorn syndrome]
We
report
on
a
two
-
year
-old
female
with
a
de
novo
proximal
interstitial
deletion
of
the
short
arm
of
chromosome
4
and
a
tetralogy
of
Fallot
malformation
.
The
patient
had
a
karyotype
of
46
,
XX
,
del
(
4
)
(
p
14
p
15
.
33
)
that
was
further
characterized
by
array
comparative
genomic
hybridization
(
aCGH
)
.
Phenotypic
abnormalities
for
our
patient
are
compared
with
those
of
previously
reported
patients
with
similar
proximal
4
p
deletions
as
well
as
more
distal
deletions
.
The
functions
of
genes
that
are
deleted
within
this
segment
are
reviewed
.
