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Mirror-image asymmetry in monozygotic twins with kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
OMIM
147920
)
is
a
rare
disorder
characterised
by
moderate
intellectual
disability
,
growth
retardation
,
microcephaly
and
characteristic
facial
dysmorphic
features
which
comprise
long
palpebral
fissures
,
eversion
of
the
lateral
third
of
the
eyelids
and
arched
eyebrows
with
lateral
sparseness
.
Mutations
in
MLL
2
are
the
most
frequent
cause
of
this
disorder
.
More
than
100
MLL
2
point
mutations
have
been
reported
,
but
large
intragenic
deletions
comprising
one
or
more
exons
have
not
yet
been
identified
.
We
report
on
a
pair
of
monozygotic
twin
brothers
in
whom
a
deletion
of
2
neighbouring
exons
was
detected
.
The
twins
had
the
characteristic
facial
features
of
Kabuki
syndrome
,
and
they
suffered
from
microcephaly
,
cleft
lip
and
palate
and
congenital
heart
disease
.
Cleft
lip
and
palate
were
left-sided
in
the
first
twin
and
right
-sided
in
the
second
twin
,
i
.
e
.
they
represented
a
mirror
-image
asymmetry
.
The
intragenic
deletion
in
these
brothers
broadens
the
spectrum
of
MLL
2
mutations
,
and
they
provide
a
rare
example
of
mirror
-image
asymmetry
of
congenital
malformations
in
monozygotic
twins
.
Diseases
Validation
Diseases presenting
"monozygotic twin brothers"
symptom
kabuki syndrome
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