Rare Diseases Symptoms Automatic Extraction
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Loss of the extra chromosome 21 in a patient with Down syndrome and myelodysplasia.
[monosomy 21]
Monosomy
21
is
a
rare
acquired
karyotypic
abnormality
associated
with
myeloid
disorders
.
Occurrence
of
loss
of
one
chromosome
21
in
the
background
of
trisomy
21
in
Down
syndrome
,
resulting
in
the
pseudo-normalization
of
trisomy
21
,
is
a
novel
finding
.
The
case
is
described
of
a
patient
with
Down
syndrome
who
acquired
such
a
genetic
abnormality
as
a
result
of
myelodysplastic
syndrome
.