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Detection of mosaic chromosome 21 aneuploidy in vivo with CB-FISH method.
[monosomy 21]
To
explore
the
mechanism
by
which
the
ratio
of
mosaic
diploid
cells
in
vivo
increased
in
trisomy
21
cases
.
Fluorescence
in
situ
hybridization
(
FISH
)
with
pericentric
DNA
probes
specific
to
human
chromosome
21
to
the
binucleated
cells
cytokinesis-
blocked
by
cytochalasin-
B
(
CB
)
,
namely
,
CB-FISH
method
.
The
mean
frequency
of
diploid
cells
(
1
.
69
%
+
/
-
1
.
07
%
)
was
significantly
higher
than
that
of
tetrasomy
21
cells
(
0
.
042
%
+
/
-
0
.
064
%
)
(
P
=
0
.
000
)
in
12
trisomy
21
cases
aged
0
-
9
years
(
mean
4
years
)
in
vivo
;
whereas
the
incidence
of
spontaneous
monosomy
21
cells
(
0
.
265
%
+
/
-
0
.
13
%
)
was
close
to
the
frequency
of
trisomy
21
cells
(
0
.
225
%
+
/
-
0
.
184
%
)
in
20
control
individuals
aged
0
-
10
years
(
mean
5
years
)
.
The
frequency
of
cells
undergone
chromosome
21
nondisjunction
was
0
.
822
%
+
/
-
0
.
554
%
in
cultured
trisomy
21
cells
,
which
was
significantly
higher
than
that
in
the
cultured
diploid
cells
(
0
.
369
%
+
/
-
0
.
25
%
)
.
However
,
the
rates
of
cells
with
chromosome
21
loss
in
the
two
cultured
cell
lines
(
0
.
01
%
+
/
-
0
.
03
%
vs
0
.
043
%
+
/
-
0
.
049
%
)
were
not
significantly
different
.
In
both
cultured
cell
lines
,
chromosome
21
nondisjunction
occurred
more
frequently
than
loss
.
The
increased
frequency
of
diploidies
in
trisomy
21
cases
may
result
from
the
accumulation
of
diploid
cells
originating
from
malsegregation
of
chromosome
21
in
trisomic
cells
rather
than
the
increase
of
chromosome
21
loss
.
