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Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.
[kabuki syndrome]
Isochromosome
is
a
structurally
unbalanced
chromosome
consisting
of
two
short
arms
or
two
long
arms
,
which
are
derived
by
abnormal
centromere
division
or
sister-chromatid
exchange
.
Most
autosomal
isochromosomes
are
unusual
,
while
those
involving
sex
chromosomes
are
common
.
Kabuki
syndrome
(
KS
,
OMIM
147920
)
is
a
multiple
malformation
/
mental
retardation
syndrome
of
unknown
etiology
.
A
conventional
cytogenetic
study
on
lymphocytes
from
a
4
-
year
-old
girl
with
physical
features
suggestive
of
KS
was
found
to
have
mosaicism
for
isochromosome
for
the
long
arm
of
the
X
.
Although
most
manifestations
present
in
this
patient
have
been
described
before
,
this
report
is
a
rare
association
of
clinical
and
cytogenetic
findings
in
this
syndrome
.
A
genome-
wide
analysis
and
a
larger
number
of
patient
groups
studied
could
improve
our
understanding
of
the
genetic
basis
of
KS
.