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Impact of chromosome 4p- syndrome on communication and expressive language skills: a preliminary investigation.
[wolf-hirschhorn syndrome]
The
purpose
of
this
investigation
was
to
examine
the
impact
of
Chromosome
4
p
-
syndrome
on
the
communication
and
expressive
language
phenotype
of
a
large
cross-cultural
population
of
children
,
adolescents
,
and
adults
.
A
large
-scale
survey
study
was
conducted
and
a
descriptive
research
design
was
used
to
analyze
quantitative
and
qualitative
data
regarding
the
communication
and
expressive
language
manifestations
of
200
children
,
youth
,
and
adults
from
16
countries
and
Puerto
Rico
who
had
been
diagnosed
with
4
p
conditions
,
including
Wolf-
Hirschhorn
syndrome
(
WHS
)
,
Pitt
-
Rogers
-
Danks
syndrome
(
PRDS
)
,
Proximal
4
p
Deletion
syndrome
,
and
complex
chromosomal
rearrangements
associated
with
4
p
-
.
Individuals
with
Chromosome
4
p
-
syndrome
represent
a
heterogeneous
population
with
complex
phenotypic
profiles
.
The
majority
of
the
participants
exhibited
communication
and
expressive
language
skills
below
the
36
-
month
developmental
functioning
level
.
A
relatively
small
cohort
of
the
study
population
exhibited
advanced
expressive
language
skills
,
a
finding
not
reported
in
the
professional
literature
.
Results
broaden
the
spectrum
of
expressive
language
skills
associated
with
Chromosome
4
p
-
syndrome
and
highlight
the
communication
potential
of
a
subset
of
individuals
with
4
p
abnormalities
for
development
of
advanced
language
structures
.
It
is
hypothesized
that
the
largest
4
p
deletion
,
which
includes
the
4
p
16
.
3
band
and
contiguous
gene
regions
,
results
in
the
most
severely
affected
expressive
language
phenotype
.
Diseases
Validation
Diseases presenting
"language manifestations"
symptom
wolf-hirschhorn syndrome
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