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Cytogenetic abnormalities in pediatric myelodysplastic syndrome: a report of three cases.
[monosomy 21]
Three
consecutive
cases
of
pediatric
myelodysplastic
syndrome
(
MDS
)
diagnosed
over
a
three
-
year
period
in
Queen
Mary
Hospital
,
Hong
Kong
,
were
described
.
Depending
on
the
classification
system
used
,
they
comprised
two
cases
of
chronic
myelomonocytic
leukemia
(
CMMoL
)
of
which
one
can
be
reclassified
as
juvenile
chronic
myeloid
leukemia
(
JCML
)
and
one
cases
of
refractory
anemia
with
excess
of
blasts
(
RAEB
)
or
an
alternative
diagnosis
of
atypical
CML
.
Cytogenetic
abnormalities
were
detected
in
all
of
them
on
examination
of
bone
marrow
cells
.
Of
the
two
CMMoL
,
one
had
monosomy
21
,
whereas
the
other
had
hypodiploidy
.
The
patient
with
RAEB
had
a
complex
karyotype
of
46
,
X
,
del
(
X
)
(
q
24
)
,
t
(
1
;
7
)
(
p
22
;
q
32
)
,
add
(
15
)
(
q
26
)
(
8
)
.
The
balanced
translocation
(
1
;
7
)
seen
in
this
patient
was
exceedingly
rare
and
,
to
the
best
of
our
knowledge
,
was
reported
only
twice
in
the
literature
.
The
karyotypic
abnormalities
that
we
saw
in
our
patients
were
not
well
recognized
in
pediatric
MDS
.
This
report
emphasizes
the
importance
of
cytogenetic
study
in
children
suspected
of
suffering
from
MDS
,
which
remains
a
rare
disorder
of
childhood
,
and
a
need
to
rationalize
current
classification
schemes
.
Diseases
Validation
Diseases presenting
"bone marrow cells"
symptom
aromatase deficiency
erythropoietic protoporphyria
kindler syndrome
monosomy 21
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