Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan.
[monosomy 21]
We
determined
the
incidence
of
specific
chromosome
abnormalities
in
this
Japanese
population
so
that
comparisons
could
be
made
to
the
incidence
of
chromosome
abnormalities
reported
for
other
populations
.
A
total
of
423
cases
of
products
of
conception
aborted
spontaneously
were
collected
for
cytogenetics
analysis
from
various
medical
sites
located
in
Japan
.
The
cytogenetic
results
,
along
with
clinical
information
including
gestational
age
at
the
time
of
the
miscarriage
and
maternal
age
,
were
compiled
in
a
database
.
The
incidence
of
specific
chromosome
aberrations
was
determined
.
The
abnormalities
were
separated
by
gestational
age
at
the
time
of
the
miscarriage
and
by
maternal
age
.
The
total
number
of
specimens
available
for
cytogenetic
analysis
was
407
.
Cytogenetic
results
were
obtained
for
347
cases
(
85
.
3
%
)
,
of
which
196
(
56
.
5
%
)
showed
chromosome
abnormalities
.
Autosomal
trisomy
was
detected
in
120
cases
(
61
.
2
%
of
the
abnormal
cases
)
.
Trisomy
for
each
autosome
,
with
the
exception
of
chromosomes
1
,
5
,
6
,
11
,
12
,
and
19
,
was
identified
.
The
most
common
autosomal
trisomy
was
that
of
chromosome
16
(
30
cases
)
,
followed
by
trisomy
21
(
13
cases
)
,
and
trisomy
22
(
13
cases
)
.
Eight
cases
showed
double
trisomies
,
and
one
case
showed
trisomy
for
three
different
chromosomes
.
Two
cases
showed
monosomy
21
,
and
24
cases
showed
45
,
X
.
Triploidy
was
identified
in
27
cases
and
tetraploidy
was
detected
in
five
cases
.
Unbalanced
structural
rearrangements
were
found
in
11
cases
,
and
balanced
translocations
were
identified
in
two
cases
.
Six
cases
showed
mosaicism
:
three
cases
showed
a
normal
cell
line
;
and
three
cases
had
multiple
abnormal
cell
lines
.
Separating
the
trisomies
by
the
gestational
age
at
which
time
the
miscarriage
occurred
revealed
that
trisomies
7
,
8
,
14
,
15
,
16
and
22
occurred
exclusively
during
the
first
trimester
and
fetuses
with
trisomies
4
,
13
,
18
and
21
survived
late
into
the
second
trimester
.
Overall
patterns
of
chromosome
abnormalities
detected
in
spontaneous
abortions
in
Japan
were
similar
to
those
reported
in
the
literature
.
Diseases
Validation
Diseases presenting
"and one case showed trisomy for three different chromosomes"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom