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A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.
[monosomy 21]
A
case
is
presented
in
which
monosomy
21
was
detected
by
routine
cytogenetics
and
fluorescence
in
situ
hybridization
(
FISH
)
studies
demonstrated
an
unbalanced
translocation
t
(
5
;
21
)
.
The
patient
was
partially
monosomic
for
both
5
p
and
21
q
.
The
phenotype
of
the
infant
showed
some
features
of
the
5
p
-
(
cri-du-chat
)
syndrome
,
but
there
were
also
features
present
which
were
uncharacteristic
of
this
syndrome
.
The
present
findings
,
combined
with
similar
cases
reported
in
the
literature
,
provide
further
support
for
a
proximal
monosomy
21
q
syndrome
.
Diseases
Validation
Diseases presenting
"proximal monosomy"
symptom
monosomy 21
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