Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
[monosomy 21]
In
situ
hybridization
was
used
to
characterize
an
undetected
chromosome
translocation
in
a
child
whose
metaphase
chromosome
analysis
in
peripheral
blood
and
in
skin
culture
revealed
apparent
monosomy
21
.
The
cytogenetic
study
revealed
45
chromosomes
,
and
no
other
structural
anomalies
were
detected
with
G
banding
.
In
situ
hybridization
of
chromosome
21
-
specific
probes
to
metaphase
chromosomes
and
reverse
banding
from
the
proband
showed
a
de
novo
translocation
between
chromosome
5
and
chromosome
21
.