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Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
[monosomy 21]
Genomic
single
-copy
DNA
fragments
were
used
to
characterize
an
undetected
chromosome
translocation
in
an
individual
whose
metaphase
chromosome
analysis
revealed
apparent
monosomy
21
.
Eight
RFLPs
detected
by
six
probes
were
used
to
identify
homologous
sequences
from
chromosome
21
in
DNA
digests
from
the
proband
and
her
parents
.
These
family
studies
showed
that
the
proband
was
disomic
for
the
distal
region
of
21
q
.
Reverse
banding
and
in
situ
hybridization
of
chromosome
21
-
specific
probes
to
metaphase
chromosomes
from
the
proband
revealed
a
de
novo
translocation
with
breakpoints
at
5
p
13
or
14
and
21
q
11
or
21
.
In
situ
hybridization
permitted
orientation
of
the
translocated
portion
of
chromosome
21
on
the
derivative
chromosome
5
and
,
in
conjunction
with
molecular
analysis
and
previous
mapping
studies
,
refined
the
physical
map
for
the
long
arm
of
chromosome
21
.