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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
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
