Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"reduction defect at the tarsals of the left foot"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
