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Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21.
[monosomy 21]
Nine
patients
with
previously
unreported
chromosome
changes
were
identified
among
209
B-
cell
chronic
lymphocytic
leukaemia
(
CLL
)
cases
:
three
patients
had
a
translocation
involving
6
p
24
-
25
;
three
had
a
12
p
12
-
13
translocation
;
two
had
4
q
21
involvement
(
one
with
coexisting
6
p
anomaly
)
;
and
two
had
monosomy
21
.
Interphase
fluorescence
in
situ
hybridization
(
FISH
)
detected
some
cryptic
aberrations
(
+
12
,
6
q-
,
17
p
-
,
11
q-
)
in
those
patients
with
6
p
translocations
,
whereas
only
a
cytogenetically
undetected
13
q
14
deletion
was
found
in
the
remaining
cases
.
Atypical
morphology
was
noted
in
six
cases
,
including
both
cases
with
monosomy
21
,
two
cases
with
6
p
and
4
q
21
anomaly
and
one
case
with
12
p
involvement
.
Four
of
these
cases
also
had
more
than
one
phenotype
deviation
with
respect
to
the
classical
CLL
phenotype
.
Disease
progression
after
21
-
51
months
(
median
41
)
was
noted
in
two
cases
with
6
p
and
4
q
21
involvement
and
in
one
case
with
12
p
anomaly
and
monosomy
21
.
We
arrived
at
the
following
conclusions
:
(
i
)
6
p
24
-
25
and
,
possibly
,
4
q
21
lesions
represent
non-random
events
in
CLL
,
occurring
in
association
with
other
well-known
unbalanced
rearrangements
;
(
ii
)
12
p
rearrangements
and
monosomy
21
may
possibly
represent
early
chromosome
defects
that
are
not
associated
with
the
classical
DNA
gains
and
losses
known
to
be
present
in
the
majority
of
CLL
;
and
(
iii
)
atypical
morphology
and
immunophenotype
as
well
as
disease
progression
were
frequently
observed
in
these
cases
Diseases
Validation
Diseases presenting
"the classical dna gains"
symptom
monosomy 21
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