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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
"partial trisomy"
symptom
monosomy 21
wolf-hirschhorn syndrome
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