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A random Abstract
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Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.
[wolf-hirschhorn syndrome]
The
use
of
conventional
cytogenetic
techniques
in
combination
with
fluorescent
in
situ
hybridization
(
FISH
)
and
single
-nucleotide
polymorphism
(
SNP
)
microarrays
is
necessary
for
the
identification
of
cryptic
rearrangements
in
the
diagnosis
of
chromosomal
syndromes
.
We
report
two
siblings
,
a
boy
of
9
years
and
9
months
of
age
and
his
7
-
years
-
and
5
-
month
-old
sister
,
with
the
classic
Wolf-
Hirschhorn
syndrome
(
WHS
)
phenotype
.
Using
high
-resolution
GTG-
and
NOR-banding
karyotypes
,
as
well
as
FISH
analysis
,
we
characterized
a
pure
4
p
deletion
in
both
sibs
and
a
balanced
rearrangement
in
their
father
,
consisting
in
an
insertion
of
4
p
material
within
a
nucleolar
organizing
region
of
chromosome
15
.
Copy
number
variant
(
CNV
)
analysis
using
SNP
arrays
showed
that
both
siblings
have
a
similar
size
of
4
p
deletion
(
~
6
.
5
Mb
)
.
Our
results
strongly
support
the
need
for
conventional
cytogenetic
and
FISH
analysis
,
as
well
as
high
-density
microarray
mapping
for
the
optimal
characterization
of
the
genetic
imbalance
in
patients
with
WHS
;
parents
must
always
be
studied
for
recognizing
cryptic
balanced
chromosomal
rearrangements
for
an
adequate
genetic
counseling
.