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A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.
[monosomy 21]
By
using
fluorescence
in
situ
hybridization
(
FISH
)
,
we
demonstrate
a
case
of
monosomy
21
to
result
from
an
unbalanced
translocation
involving
the
short
arm
of
chromosome
5
and
the
long
arm
of
chromosome
21
.
Our
case
is
compared
to
3
similar
cases
of
t
(
5
p
;
21
q
)
reported
recently
,
which
were
also
originally
diagnosed
as
monosomy
21
.
The
breakpoint
on
chromosome
5
in
these
cases
occurred
in
the
p
13
-
p
15
region
,
whereas
the
breakpoint
on
chromosome
21
was
in
the
q
21
-
q
22
region
.
Comparison
of
the
clinical
findings
in
these
patients
demonstrated
great
similarities
.
Furthermore
,
a
strong
correlation
between
the
clinical
manifestations
of
these
patients
with
cridu-chat
syndrome
patients
was
also
noted
.
We
suggest
that
cases
with
unbalanced
t
(
5
p
;
21
q
)
represent
a
distinct
syndrome
which
can
be
grouped
under
a
new
category
of
"
5
p
/
21
q
deletion
syndrome
.
"
