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Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
[wolf-hirschhorn syndrome]
The
aim
of
this
study
was
to
obtain
a
quantitative
definition
of
Wolf-
Hirschhorn
syndrome
(
WHS
)
through
systematic
phenotypic
analyses
in
a
group
of
six
children
with
4
p
15
.
32
 
→
 
pter
,
4
p
15
.
33
 
→
 
pter
,
or
4
p
16
.
1
 
→
 
pter
monosomy
(
considered
together
as
M
4
p
16
.
1
)
.
These
results
were
used
for
evaluation
of
the
phenotypic
effects
of
a
double
chromosome
imbalance
in
one
child
with
4
p
16
.
1
 
→
 
pter
monosomy
and
additional
11
q
23
.
3
 
→
 
qter
trisomy
.
Children
with
pure
M
4
p
16
.
1
presented
with
a
total
of
227
clinical
and
morphological
traits
,
of
which
119
were
positive
in
at
least
two
of
them
.
These
traits
overlap
to
a
great
extent
with
clinical
criteria
defining
the
WHS
phenotype
.
Among
the
103
traits
identified
in
the
child
with
unbalanced
translocation
der
(
4
)
t
(
4
;
11
)
(
p
16
.
1
;
q
23
.
3
)
,
most
clinical
and
developmental
traits
(
but
only
11
morphological
)
were
found
to
be
shared
by
WHS
children
with
pure
M
4
p
16
.
1
and
at
least
one
reported
patient
with
pure
11
q
trisomy
.
Forty
-
six
traits
of
this
child
corresponded
solely
to
those
identified
in
at
least
one
child
with
pure
M
4
p
16
.
1
.
Only
five
traits
of
the
hybrid
phenotype
were
present
in
at
least
one
child
with
pure
distal
11
q
trisomy
but
in
none
of
the
present
children
with
pure
M
4
p
16
.
1
.
In
conclusion
,
most
of
the
morphological
traits
of
the
hybrid
phenotype
in
the
child
with
der
(
4
)
t
(
4
;
11
)
(
p
16
.
1
;
q
23
.
3
)
can
be
attributed
to
the
M
4
p
16
.
1
,
whereas
their
overlap
with
those
associated
with
pure
distal
11
q
trisomy
is
less
evident
.
Phenotype
analyses
based
on
the
same
systematic
data
acquisition
may
be
useful
in
understanding
the
phenotypic
effects
of
different
chromosome
regions
in
complex
rearrangements
.
©
2011
Wiley
-
Liss
,
Inc
.
Diseases
Validation
Diseases presenting
"complex rearrangements"
symptom
aromatase deficiency
kallmann syndrome
pleomorphic liposarcoma
wolf-hirschhorn syndrome
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