Rare Diseases Symptoms Automatic Extraction
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Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization.
[monosomy 21]
Complete
monosomy
21
is
claimed
to
be
a
rare
chromosomal
disorder
in
which
the
cytogenetic
investigation
is
bedevilled
by
technical
difficulties
.
We
describe
the
disparate
clinical
features
in
two
patients
in
whom
an
initial
diagnosis
of
monosomy
21
was
made
by
routine
karyotyping
.
Fluorescence
in
situ
hybridisation
(
FISH
)
confirmed
a
translocation
of
chromosome
21
material
to
the
short
arm
of
chromosome
5
and
to
the
X
chromosome
,
respectively
.
The
usefulness
of
FISH
in
the
investigation
of
subtle
chromosomal
rearrangements
is
hereby
demonstrated
.
These
findings
also
cast
doubt
on
the
existence
of
"
pure
"
monosomy
21
as
an
entity
,
and
suggest
that
partial
monosomy
21
is
a
more
likely
occurrence
.