Rare Diseases Symptoms Automatic Extraction
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Monosomy 21: a new case confirmed by in situ hybridization.
[monosomy 21]
A
new
case
of
total
monosomy
21
in
a
newborn
is
described
.
The
diagnosis
was
first
made
using
the
cytogenetic
data
;
it
was
then
confirmed
by
the
dosage
of
copper-superoxide
dismutase
(
SOD
-
1
)
which
showed
a
50
%
decrease
.
In
situ
hybridization
with
a
probe
previously
assigned
to
chromosome
21
was
used
to
rule
out
the
possibility
of
a
partial
monosomy
with
an
unbalanced
reciprocal
translocation
.
