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[Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion].
[wolf-hirschhorn syndrome]
Pericentric
inversion
of
chromosome
4
can
give
rise
to
2
alternate
recombinant
(
rec
)
chromosomesby
duplication
or
deletion
of
4
p
.
The
deletion
of
distal
4
p
manifests
as
Wolf-
Hirschhorn
syndrome
(
WHS
)
.
Here
,
we
report
the
molecular
cytogenetic
findings
and
clinical
manifestations
observed
in
an
infant
with
46
,
XX
,
rec
(
4
)
dup
(
4
q
)
inv
(
4
)
(
p
16
q
31
.
3
)
pat
.
The
infant
was
delivered
by
Cesarean
section
at
the
33rd
week
of
gestation
because
pleural
effusion
and
polyhydramnios
were
detected
on
ultrasonography
.
At
birth
,
the
infant
showed
no
malformation
or
dysfunction
,
except
for
a
preauricular
skin
tag
.
Array
comparative
genomic
hybridization
analysis
of
neonatal
peripheral
blood
samples
showed
a
gain
of
38
Mb
on
4
q
31
.
3
-
qter
and
a
loss
of
3
Mb
on
4
p
16
.
3
,
and
these
results
were
consistent
with
WHS
.
At
the
last
follow-up
at
8
months
of
age
(
corrected
age
,
6
months
)
,
the
infant
had
not
achieved
complete
head
control
.
Diseases
Validation
Diseases presenting
"wolf-hirschhorn syndrome"
symptom
wolf-hirschhorn syndrome
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