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[Polymorphism of restriction fragment length in the detection of the precise status of monosomy 21 in a deformed retarded girl].
[monosomy 21]
The
authors
used
genomic
single
copy
DNA
fragments
cloned
from
chromosome
21
to
study
cytogenetic
abnormalities
in
patients
not
easily
defined
by
conventional
cytogenetic
means
.
Ten
restriction
fragment
length
polymorphisms
(
RLFP
)
detected
by
8
independent
probes
were
used
to
detect
homologous
sequences
from
chromosome
21
in
genomic
digests
of
DNA
from
one
patient
and
her
parents
.
The
proband
is
a
3
1
/
2
-
year
-old
girl
who
was
referred
to
us
at
1
month
of
age
because
of
hypertonia
,
hirsutism
,
flattened
nasal
bridge
,
antimongoloid
slant
of
palpebral
fissures
,
high
arched
palate
and
bilateral
hip
dysplasia
.
The
karyotype
of
the
proband
was
:
46
,
XX
,
-
3
,
-
21
,
+
?
del
(
3
)
(
3
pter----
3
q
1
:
)
+
?
(
3
qter----
3
q
1
:
:
21
q
21
-
-
-
-
21
pter
)
.
GTG
banding
and
the
karyotype
of
her
parents
were
normal
(
in
peripheral
blood
and
skin
fibroblasts
)
.
She
was
re
-examined
by
us
every
three
months
,
because
she
showed
physical
and
psychomotor
retardation
.
We
traced
the
inheritance
of
RFLPs
from
her
parents
,
and
familial
molecular
studies
showed
in
contrast
to
the
cytogenetic
analysis
that
the
patient
is
disomic
for
all
regions
of
21
q
tested
by
our
collection
of
probes
.
The
use
of
molecular
technology
has
resulted
in
a
more
precise
definition
of
21
chromosome
abnormalities
and
especially
the
"
complete
"
monosomy
21
which
is
extremely
rare
in
live
born
infants
.
Diseases
Validation
Diseases presenting
"deformed retarded girl].the authors"
symptom
monosomy 21
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