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Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
[22q11.2 deletion syndrome]
Objectives
:
 
The
aim
of
this
study
was
to
describe
clinical
features
in
subjects
with
palatal
abnormalities
and
to
assess
the
distribution
of
these
features
among
those
with
and
without
22
q
11
.
2
deletion
.
Design
:
 
Descriptive
cohort
.
Patients
:
 
One
hundred
patients
with
palatal
abnormalities
and
suspicion
of
22
q
11
.
2
DS
were
included
.
Methods
:
 
All
patients
were
evaluated
by
a
clinical
geneticist
,
who
completed
a
standardized
clinical
protocol
.
The
22
q
11
.
2
deletion
screening
was
performed
with
fluorescence
in
situ
hybridization
using
the
TUPLE
1
probe
and
multiplex
ligation-dependent
probe
amplification
using
the
P
250
-
A
1
kit
.
Results
:
 
The
22
q
11
.
2
deletion
was
detected
in
35
patients
,
in
whom
the
most
frequent
clinical
features
were
congenital
heart
disease
(
50
%
)
,
developmental
delay
(
54
%
)
,
speech
delay
(
57
%
)
,
learning
disabilities
(
77
%
)
,
and
immunologic
alterations
/
recurrent
infections
(
62
%
)
.
In
addition
,
the
most
common
facial
dysmorphisms
in
this
group
were
long
face
(
77
%
)
,
typical
nose
(
69
%
)
,
and
hooded
eyelids
(
54
%
)
.
Comparing
features
in
patients
with
or
without
the
deletion
revealed
significant
differences
(
positively
correlated
with
the
deletion
)
for
speech
delay
,
learning
disabilities
,
conductive
hearing
loss
,
number
of
dysmorphisms
,
long
face
,
and
hooded
eyelids
.
Cleft
lip
and
palate
was
negatively
correlated
with
the
deletion
.
Conclusions
:
 
The
presence
of
speech
delay
,
learning
disabilities
,
conductive
hearing
loss
,
long
face
,
and
hooded
eyelids
should
reinforce
the
suspicion
of
22
q
11
.
2
DS
in
patients
with
palatal
abnormalities
and
would
help
professionals
direct
clinical
follow-up
of
these
patients
.
Diseases
Validation
Diseases presenting
"conductive hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
congenital diaphragmatic hernia
holt-oram syndrome
lamellar ichthyosis
pendred syndrome
This symptom has already been validated
