Rare Diseases Symptoms Automatic Extraction
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[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
[wolf-hirschhorn syndrome]
To
confirm
the
diagnosis
of
a
Wolf-
Hirschhorn
syndrome
by
family
study
using
both
cytogenetic
and
molecular
genetic
techniques
.
G-
band
karyotyping
was
performed
for
all
the
6
members
in
the
family
.
Multiplex
ligation-dependent
probe
amplification
(
MLPA
)
was
used
to
detect
the
chromosome
abnormality
for
the
proband
,
his
father
and
brother
.
Microarray
comparative
genomic
hybridization
(
Array-
CGH
)
was
carried
out
to
map
the
exact
chromosomal
breakpoints
for
the
proband
.
The
proband
presented
with
a
typical
face
,
delayed
growth
and
hypotonia
in
Wolf-
Hirschhorn
syndrome
.
His
G-
band
karyotype
was
46
,
XY
,
der
(
4
)
t
(
4
;
8
)
(
p
16
.
2
;
p
23
.
1
)
pat
.
MLPA
showed
4
pter
loss
and
8
pter
gain
.
Array-
CGH
revealed
an
XY
male
with
a
3
.
781
Mb
deletion
of
4
p
16
.
3
-
p
16
.
2
and
a
6
.
760
Mb
duplication
of
8
p
23
.
3
-
p
23
.
1
.
The
proband
's
brother
has
mental
retardation
and
skeletal
abnormalities
.
His
G-
band
karyotype
was
46
,
XY
,
der
(
8
)
t
(
4
;
8
)
(
p
16
.
2
;
p
23
.
1
)
pat
.
MLPA
showed
4
pter
gain
and
8
pter
loss
.
The
proband
's
father
had
normal
phenotype
with
a
balanced
translocation
of
46
,
XY
,
t
(
4
;
8
)
(
p
16
.
2
;
p
23
.
1
)
pat
.
MLPA
showed
a
normal
result
.
The
proband
's
grandfather
showed
a
normal
phenotype
with
a
balanced
translocation
46
,
XY
,
t
(
4
;
8
)
(
p
16
.
2
;
p
23
.
1
)
.
The
other
members
in
the
family
showed
normal
phenotypes
with
normal
karyotypes
.
The
proband
has
features
of
Wolf-
Hirschhorn
syndrome
with
partial
monosomy
4
p
and
partial
trisomy
8
p
.
The
proband
's
brother
has
a
partial
trisomy
4
p
and
partial
monosomy
8
p
.
The
derived
chromosomes
are
inherited
from
paternal
balanced
translocation
t
(
4
;
8
)
(
p
16
.
2
;
p
23
.
1
)
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
