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Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.
[22q11.2 deletion syndrome]
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
is
a
multi-systemic
disorder
with
high
phenotypic
variability
.
Under-diagnosis
in
adults
is
common
and
recognition
of
facial
dysmorphic
features
can
be
affected
by
age
and
ethnicity
.
This
study
aims
to
determine
the
prevalence
of
undiagnosed
22
q
11
.
2
DS
in
adult
Chinese
patients
with
conotruncal
anomalies
and
to
delineate
their
facial
dysmorphisms
and
extra
-
cardiac
manifestations
.
We
recruited
consecutively
156
patients
with
conotruncal
anomalies
in
an
adult
congenital
heart
disease
(
CHD
)
clinic
in
Hong
Kong
and
screened
for
22
q
11
.
2
DS
using
fluorescence-
PCR
and
fluorescence
in
-situ
hybridization
.
Assessment
for
dysmorphic
features
was
performed
by
a
cardiologist
at
initial
screening
and
then
by
a
clinical
geneticist
upon
result
disclosure
.
Clinical
photographs
were
taken
and
childhood
photographs
collected
.
Eighteen
patients
(
11
.
5
%
)
were
diagnosed
with
22
q
11
.
2
DS
,
translating
into
1
previously
unrecognized
diagnosis
of
22
q
11
.
2
DS
in
every
10
adult
patients
with
conotruncal
anomalies
.
While
dysmorphic
features
were
detected
by
our
clinical
geneticist
in
all
patients
,
only
two
-thirds
were
considered
dysmorphic
by
our
cardiologist
upon
first
assessment
.
Evolution
of
facial
dysmorphic
features
was
noted
with
age
.
Extra
-
cardiac
manifestations
included
velopharyngeal
incompetence
or
cleft
palate
(
44
%
)
,
hypocalcemia
(
39
%
)
,
neurodevelopmental
anomalies
(
33
%
)
,
thrombocytopenia
(
28
%
)
,
psychiatric
disorders
(
17
%
)
,
epilepsy
(
17
%
)
and
hearing
loss
(
17
%
)
.
We
conclude
that
under-diagnosis
of
22
q
11
.
2
DS
in
Chinese
adults
with
conotruncal
defects
is
common
and
facial
dysmorphic
features
may
not
be
reliably
recognized
in
the
setting
of
adult
CHD
clinic
,
referral
for
genetic
evaluation
and
molecular
testing
for
22
q
11
.
2
DS
should
be
offered
to
patients
with
conotruncal
defects
.
Diseases
Validation
Diseases presenting
"thrombocytopenia"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
dedifferentiated liposarcoma
erythropoietic protoporphyria
esophageal adenocarcinoma
heparin-induced thrombocytopenia
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
liposarcoma
malignant atrophic papulosis
monosomy 21
oculocutaneous albinism
scrub typhus
sneddon syndrome
typhoid
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated
