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Monosomy 21 in hematologic diseases.
[monosomy 21]
Monosomy
21
mosaicism
as
a
sole
cytogenetic
abnormality
is
very
uncommon
,
with
47
cases
described
in
the
literature
.
We
identified
five
cases
of
low
-level
monosomy
21
mosaicism
since
1998
,
none
of
which
were
confirmed
by
fluorescence
in
situ
hybridization
(
FISH
)
analysis
or
follow-up
cytogenetic
studies
.
These
five
cases
,
and
many
of
the
previously
reported
cases
,
probably
represent
the
random
appearance
of
several
monosomy
21
cells
as
artifacts
of
cell
culture
or
microscope
slide
preparation
.
The
most
convincing
reported
cases
of
monosomy
21
mosaicism
suggest
a
rare
association
of
monosomy
21
with
acute
myelocytic
leukemia
and
chronic
lymphocytic
leukemia
.
Future
cases
suggestive
of
monosomy
21
mosaicism
should
be
confirmed
by
analysis
of
additional
metaphase
cells
and
by
FISH
analysis
of
interphase
cells
.
Diseases
Validation
Diseases presenting
"probably represent the random appearance of several monosomy 21 cells as artifacts of cell culture or microscope slide preparation"
symptom
monosomy 21
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