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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
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated