Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Chromosomal fragility in patients with triple A syndrome.
[triple a syndrome]
Triple
A
syndrome
is
a
rare
,
autosomal
recessive
disorder
characterized
by
alacrima
,
achalasia
,
and
adrenal
insufficiency
.
Previous
studies
have
shown
that
the
triple
A
gene
(
AAAS
)
maps
to
chromosomal
band
12
q
13
.
Mutations
in
the
AAAS
gene
have
been
identified
in
triple
A
syndrome
patients
;
however
,
the
function
of
this
gene
is
still
obscure
.
We
used
classical
and
high
-resolution
chromosome
analyses
along
with
chromosome
painting
and
DNA
sequencing
to
study
patients
with
triple
A
syndrome
.
We
observed
abnormalities
in
the
heterochromatic
region
of
chromosome
9
that
included
chromatid
breaks
,
chromosome
breaks
,
whole
chromosome
arm
loss
,
and
marker
chromosomes
,
which
occurred
at
unusually
high
frequencies
in
affected
patients
and
heterozygotes
.
Our
study
raises
the
possibility
of
an
association
between
chromosomal
fragility
in
band
9
q
12
and
triple
A
syndrome
.
Further
investigation
is
necessary
to
understand
the
biologic
basis
of
this
finding
in
the
context
of
triple
A
syndrome
.
Diseases
Validation
Diseases presenting
"alacrima"
symptom
neonatal adrenoleukodystrophy
triple a syndrome
This symptom has already been validated