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Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.
[wolf-hirschhorn syndrome]
Pericentric
inversion
of
chromosome
4
can
give
rise
to
recombinant
chromosomes
by
duplication
or
deletion
of
4
p
.
We
report
on
a
familial
case
of
Wolf
-
Hirschhorn
Syndrome
characterized
by
GTG-banding
karyotypes
,
FISH
,
and
array
CGH
analysis
,
caused
by
a
recombinant
chromosome
4
with
terminal
4
p
16
.
3
deletion
and
terminal
4
q
35
.
2
duplication
.
This
is
an
aneusomy
due
to
a
recombination
which
occurred
during
the
meiosis
of
heterozygote
carrier
of
cryptic
pericentric
inversion
.
We
also
describe
the
adulthood
and
prenatal
phenotypes
associated
with
the
recombinant
chromosome
4
.