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
"specific chromosome aberrations"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom