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Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization.
[monosomy 21]
We
describe
a
case
of
full
monosomy
21
which
was
prenatally
diagnosed
in
chorionic
villi
by
fluorescent
in
situ
hybridization
(
FISH
)
.
Because
of
intrauterine
fetal
death
,
a
curettage
was
performed
and
cytogenetic
analysis
of
skin
fibroblasts
confirmed
the
presence
of
monosomy
21
in
fetal
cells
.
DNA
investigations
showed
a
paternal
origin
of
the
single
chromosome
21
.
Inspection
and
autopsy
of
the
fetus
revealed
several
congenital
malformations
.
Some
of
them
have
been
reported
in
earlier
studies
of
monosomy
21
;
others
concern
new
observations
.
Regarding
the
eye
,
the
following
abnormalities
were
microscopically
observed
:
absence
of
the
anterior
and
posterior
eye
chambers
,
aniridy
,
a
hypoplastic
ciliary
body
,
Peter
's
anomaly
,
and
a
double
retina
with
secondary
dysplasia
.
In
addition
,
malformations
of
the
extremities
were
seen
:
partial
,
proximal
syndactyly
of
digits
3
and
4
of
the
right
hand
;
pes
varus
position
of
the
right
foot
;
and
transverse
reduction
defect
at
the
tarsals
of
the
left
foot
.
To
our
knowledge
,
this
is
the
first
case
in
which
full
monosomy
21
has
been
proven
.
Diseases
Validation
Diseases presenting
"right hand"
symptom
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
kindler syndrome
monosomy 21
oral submucous fibrosis
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