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Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.
[monosomy 21]
The
occurrence
of
complete
autosomal
monosomy
in
man
is
extremely
rare
and
generally
considered
to
be
incompatible
with
life
.
Since
the
introduction
of
banding
techniques
in
human
cytogenetics
,
several
cases
of
presumptive
monosomy
for
chromosome
21
have
nevertheless
been
reported
.
However
,
it
has
been
suggested
that
most
,
if
not
all
,
of
these
cases
may
represent
unbalanced
translocations
or
other
structural
aberrations
resulting
in
only
partial
monosomy
21
.
Here
we
described
a
patient
in
whom
full
monosomy
21
was
initially
diagnosed
by
routine
karyotyping
.
Re-examination
with
a
combination
of
high
resolution
banding
technique
,
chromosome
painting
and
DNA
polymorphism
analysis
demonstrated
the
presence
of
an
unbalanced
translocation
between
the
long
arms
of
chromosome
11
and
21
,
respectively
.
Consequently
,
the
case
was
re
-classified
as
a
partial
monosomy
for
the
proximal
long
arm
of
chromosome
21
.
Diseases
Validation
Diseases presenting
"long arms"
symptom
kabuki syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
wolf-hirschhorn syndrome
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