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A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.
[wolf-hirschhorn syndrome]
Larger
imbalances
on
chromosome
4
p
in
the
form
of
deletions
associated
with
Wolf-
Hirschhorn
syndrome
(
WHS
)
and
duplications
of
chromosome
4
p
have
a
defined
clinical
phenotype
.
The
critical
region
for
both
these
clinical
disorders
has
been
narrowed
based
on
the
genotype-phenotype
correlations
.
However
,
cryptic
rearrangements
in
this
region
have
been
reported
infrequently
.
We
report
on
a
male
patient
with
a
microduplication
of
chromosome
4
p
,
who
presents
with
findings
of
macrocephaly
,
irregular
iris
pigmentation
-heterochromia
,
and
preserved
linear
growth
in
addition
to
overlapping
features
of
trisomy
4
p
such
as
seizures
,
delayed
psychomotor
development
,
and
dysmorphic
features
including
prominent
glabella
,
low-set
ears
,
and
short
neck
.
Using
a
high
-density
oligonucleotide
microarray
,
we
have
identified
a
novel
submicroscopic
duplication
involving
dosage
sensitive
genes
TACC
3
,
FGFR
3
,
and
LETM
1
.
The
microduplication
did
not
involve
WHSC
1
and
WHSC
2
which
are
considered
in
the
critical
region
for
WHS
and
trisomy
4
p
.
This
patient
's
presentation
and
genomic
findings
help
further
delineate
clinical
significance
of
re
-arrangements
in
the
4
p
16
region
without
the
involvement
of
WHS
critical
region
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated