Rare Diseases Symptoms Automatic Extraction
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Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.
[monosomy 21]
Foetal
blood
sampling
was
performed
at
35
weeks
of
gestation
due
to
abnormal
foetal
ultrasound
findings
.
There
was
apparent
monosomy
21
(
45
,
XX
,
-
21
)
in
all
mitoses
analyzed
.
The
infant
died
at
37
weeks
during
delivery
.
Examination
disclosed
facial
anomalies
,
clubfeet
,
hypoplasia
of
the
left
urogenital
tract
,
agenesis
of
corpus
callosum
,
ventricular
dilatation
,
and
heterotopias
.
Reevaluation
of
the
karyotype
showed
an
unbalanced
translocation
t
(
1
;
21
)
(
q
44
;
q
22
.
11
)
which
resulted
from
a
maternal
balanced
translocation
.
These
findings
were
confirmed
by
fluorescence
in
situ
hybridization
and
molecular
studies
with
chromosome
21
specific
markers
.
The
latter
showed
a
proximal
deletion
of
the
maternally
derived
chromosome
21
including
all
loci
from
centromere
down
to
the
D
21
S
210
locus
.
This
case
illustrates
the
need
for
complementary
cytogenetic
and
molecular
investigations
in
cases
of
apparent
monosomy
21
.
Diseases
Validation
Diseases presenting
"ventricular dilatation"
symptom
achondroplasia
hydrocephalus with stenosis of the aqueduct of sylvius
monosomy 21
pyruvate dehydrogenase deficiency
This symptom has already been validated