Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
[cohen syndrome]
Using
a
test
based
on
parent
of
origin
specific
DNA
methylation
at
the
D
15
S
63
(
PW
71
)
locus
,
we
studied
385
patients
(
aged
1
to
36
years
)
for
diagnostic
confirmation
of
Prader-
Willi
syndrome
(
PWS
)
and
65
infants
(
aged
0
to
12
months
)
with
severe
hypotonia
of
unknown
cause
.
Fifty
eight
of
385
patients
were
examined
personally
;
28
/
58
patients
had
PWS
and
lacked
the
paternal
PW
71
band
and
30
/
58
patients
,
who
did
not
have
PWS
,
had
a
normal
methylation
pattern
.
In
five
of
these
patients
,
a
differential
diagnosis
was
made
(
Ohdo-like
blepharophimosis
syndrome
,
Alstrøm
syndrome
,
Cohen
syndrome
,
Bardet-
Biedl
syndrome
,
and
pseudohypoparathyroidism
)
.
A
total
of
327
/
385
blood
samples
was
sent
to
us
from
outside
.
The
test
confirmed
the
diagnosis
of
PWS
in
112
/
327
patients
.
Most
of
the
other
215
patients
lacked
the
major
diagnostic
criteria
such
as
neonatal
hypotonia
,
feeding
problems
,
characteristic
facies
,
and
hypogenitalism
.
On
the
other
hand
,
29
/
65
hypotonic
infants
tested
positive
for
PWS
.
We
conclude
that
the
PW
71
methylation
test
detects
most
,
if
not
all
,
patients
with
typical
PWS
and
that
PWS
is
often
not
recognised
in
infants
and
wrongly
suspected
in
obese
and
mentally
retarded
patients
.
Diseases
Validation
Diseases presenting
"severe hypotonia"
symptom
cohen syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom