Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Monosomy 21q: two cases of del(21q) and review of the literature.
[monosomy 21]
We
report
on
two
cases
of
partial
monosomy
21
and
review
cases
with
a
partial
or
an
apparently
full
monosomy
21
.
In
situ
hybridization
and
/
or
molecular
studies
appear
to
be
necessary
tools
to
study
imbalance
in
such
a
small
chromosome
and
to
perform
further
genotype-phenotype
correlations
.
The
segregation
mode
in
cases
with
a
translocation
is
adjacent
1
,
adjacent
2
,
and
3
:
1
in
about
1
/
4
,
1
/
4
and
1
/
2
of
the
cases
,
respectively
.
Diseases
Validation
Diseases presenting
"small chromosome"
symptom
monosomy 21
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