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B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
[cystinuria]
Duplication
22
q
11
.
2
syndrome
is
the
result
of
a
microduplication
of
the
same
chromosomal
region
that
is
deleted
in
DiGeorge
and
Velocardiofacial
syndromes
.
We
describe
a
patient
with
dysmorphic
features
who
was
diagnosed
with
pre-
B
acute
lymphoblastic
leukemia
,
and
developed
cystinuria
and
pancreatitis
during
treatment
.
Duplication
22
q
11
.
2
has
not
been
previously
described
in
association
with
hematologic
abnormalities
.
Chromosomal
microarray
technology
was
used
to
diagnose
duplication
22
q
11
.
2
syndrome
.
In
this
era
of
advanced
genomics
,
this
technology
has
become
an
important
method
for
helping
to
determine
the
molecular
basis
of
diseases
,
best
treatments
and
ultimately
patient
outcomes
.
