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Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature.
[monosomy 21]
Full
monosomy
21
is
an
extremely
rare
chromosomal
disorder
.
A
38
-
year
-old
woman
attended
a
first
trimester
scan
.
Ultrasound
(
U
/
S
)
imaging
of
the
fetus
at
12
weeks
of
gestation
showed
features
of
increased
nuchal
translucency
measurement
(
12
mm
)
.
Chorionic
villi
sampling
(
CVS
)
was
performed
after
genetic
counseling
.
At
16
weeks
of
gestation
the
fetus
showed
U
/
S
characteristics
of
severe
intrauterine
growth
restriction
,
generalized
edema
and
hydrothorax
.
Cytogenetic
examination
was
performed
using
quantitative
fluorescent
polymerase
chain
reaction
analysis
,
standard
Giesma
banding
and
fluorescent
in
situ
hybridization
analysis
.
Non-mosaic
full
monosomy
21
was
detected
and
the
parents
opted
to
terminate
the
pregnancy
.
Microsatellite
analysis
demonstrated
maternal
origin
of
the
single
chromosome
.
This
case
represents
one
of
the
few
cases
of
prenatally
diagnosed
full
monosomy
21
confirmed
only
by
CVS
,
in
which
the
parental
origin
of
the
single
chromosome
was
determined
.