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Partial chromosome 21 amplification in a child with acute lymphoblastic leukemia.
[monosomy 21]
Monosomy
21
and
metacentric
markers
corresponding
in
size
to
chromosomes
8
to
12
were
found
as
the
only
clonal
chromosomal
changes
in
a
child
with
acute
lymphoblastic
leukemia
(
ALL
)
.
chromosome
painting
with
a
whole
chromosome
21
-
specific
probe
showed
that
the
marker
originated
from
chromosome
21
.
Fluorescence
in
situ
hybridization
with
yeast
artificial
chromosome
(
YAC
)
probes
to
chromosome
21
showed
genomic
amplification
with
two
,
four
,
or
more
copies
of
the
probed
DNA
sequences
present
on
the
marker
.
The
most
amplified
regions
of
chromosome
21
were
centromeric
and
telomeric
to
the
Down
's
syndrome
region
.
This
observation
supports
the
notion
that
amplification
of
only
parts
of
chromosome
21
may
be
important
in
the
leukemogenic
process
in
spite
of
the
high
incidence
of
complete
trisomy
21
in
ALL
.
