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Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
results
from
the
partial
deletion
of
4
p
.
This
study
aimed
to
identify
and
fine
map
the
chromosome
deletion
regions
of
Chinese
children
with
Wolf-
Hirschhorn
syndrome
among
the
developmental
delay
/
mental
retardation
(
DD
/
MR
)
patients
.
We
analyzed
the
relationship
of
phenotype
and
genotype
.
Inclusion
criteria
were
:
moderate
to
severe
DD
/
MR
,
no
definite
perinatal
brain
injury
,
and
no
trauma
,
toxication
,
hypoxia
,
infection
of
central
nervous
system
;
routine
karyotyping
was
normal
,
no
evidence
of
typical
inherited
metabolic
disorder
or
specific
neurodegenerative
disorders
from
cranial
neuro-imaging
and
blood
/
urinary
metabolic
diseases
screening
;
no
mutation
of
FMR
1
in
male
patients
,
no
typical
clinical
manifestation
of
Rett
syndrome
in
female
patients
.
Multiplex
ligation-dependent
probe
amplification
(
MLPA
)
and
Affymetrix
genome-
wide
human
SNP
array
6
.
0
assays
were
applied
to
accurately
define
the
exact
size
of
subtelomeric
aberration
region
of
four
WHS
patients
.
All
four
WHS
patients
presented
with
severe
DD
,
hypotonia
and
microcephaly
,
failure
to
thrive
,
3
/
4
patients
with
typical
facial
features
and
seizures
,
2
/
4
patients
with
congenital
heart
defects
and
cleft
lip
/
palate
,
1
/
4
patients
with
other
malformations
.
The
length
of
the
deletions
ranged
from
3
.
3
Mb
to
9
.
8
Mb
.
Two
of
four
patients
had
"
classic
"
WHS
,
1
/
4
patients
had
"
mild
"
-
to
-
"
classic
"
WHS
,
and
1
/
4
patients
had
"
mild
"
WHS
.
WHS
patients
in
China
appear
to
be
consistent
with
those
previously
reported
.
The
prevalence
of
signs
and
symptoms
,
distribution
of
cases
between
"
mild
"
and
"
classic
"
WHS
,
and
the
correlation
between
length
of
deletion
and
severity
of
disease
of
these
patients
were
all
similar
to
those
of
the
patients
from
other
populations
.
Diseases
Validation
Diseases presenting
"and no trauma"
symptom
wolf-hirschhorn syndrome
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