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Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.
[wolf-hirschhorn syndrome]
The
aim
of
the
study
was
to
retrospectively
assess
the
relevance
of
using
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
for
detection
of
selected
microdeletion
syndromes
(
22
q
11
,
Prader-
Willi
/
Angelman
,
Miller-
Dieker
,
Smith-
Magenis
,
1
p
-
,
Williams
)
,
the
reciprocal
microduplication
syndromes
and
imbalance
at
the
subtelomere
regions
of
chromosomes
in
a
routine
prenatal
setting
.
A
total
of
530
prenatal
samples
were
analysed
by
commercial
MLPA
kits
(
SALSA
P
064
,
P
036
and
P
069
)
in
addition
to
rapid
aneuploidy
testing
and
G-
band
karyotyping
.
Among
the
prenatal
samples
with
a
normal
metaphase
karyotype
,
nine
submicroscopic
imbalances
were
detected
:
seven
22
q
11
deletions
(
Velocardiofacial
/
DiGeorge
syndrome
)
,
one
15
q
11
deletion
(
Prader-
Willi
syndrome
)
and
one
terminal
deletion
of
the
short
arm
of
chromosome
4
(
Wolf-
Hirschhorn
syndrome
)
.
All
imbalances
were
found
in
amniocentesis
(
AC
)
taken
due
to
fetal
structural
malformation
and
/
or
other
ultrasound
scan
(
US
)
detected
abnormality
.
The
diagnostic
yield
was
4
.
1
%
in
the
subgroup
with
structural
malformation
and
1
.
6
%
in
the
subgroup
with
other
US
abnormality
.
The
data
set
substantiates
that
additional
MLPA
analyses
for
selected
microdeletions
and
subtelomere
imbalances
are
valuable
in
routine
prenatal
diagnostics
,
when
a
malformation
(
s
)
and
/
or
other
abnormalities
are
detected
by
US
.
In
contrast
,
the
additional
MLPA
analyses
gave
no
diagnostic
yield
in
case
of
increased
nuchal
translucency
(
NT
)
.
Diseases
Validation
Diseases presenting
"short arm"
symptom
cystinuria
kindler syndrome
monosomy 21
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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