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[Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
[22q11.2 deletion syndrome]
To
carry
out
genetic
analysis
for
two
patients
affected
with
congenital
heart
disease
,
developmental
delay
with
or
without
cleft
palate
.
Cytogenetic
and
molecular
genetic
methods
including
karyotyping
,
fluorescence
in
situ
hybridization
(
FISH
)
,
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
and
single
nucleotide
polymorphisms
array
(
SNP-array
)
were
employed
to
detect
potential
mutations
.
For
parents
of
both
patients
,
MLPA
was
used
to
analyze
whether
they
were
carrier
of
the
deletion
.
For
neither
patient
,
no
abnormality
was
detected
upon
karyotype
analysis
.
However
,
FISH
analysis
has
indicated
the
presence
of
22
q
11
.
2
deletion
.
SNP-array
analysis
has
confirmed
that
both
patients
have
carried
a
2
.
5
Mb
deletion
in
the
22
q
11
.
2
region
.
MLPA
analysis
suggested
none
of
the
parents
has
carried
the
same
deletion
.
Although
the
phenotypes
of
our
patients
were
not
identical
,
they
were
both
diagnosed
as
22
q
11
.
2
deletion
syndrome
by
multiple
methods
.
The
deletions
in
both
cases
were
de
novo
in
nature
.
Precise
delineation
of
the
genotype
can
facilitate
better
understanding
of
the
patients
'
phenotype
.
Diseases
Validation
Diseases presenting
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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