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Chromosome mosaicism in 6,000 amniocenteses.
[monosomy 21]
Multiple
cell-
multiple
flask
mosaicism
was
found
in
0
.
20
%
of
6
,
000
amniocenteses
,
and
multiple
cell-
single
flask
mosaicism
was
found
in
0
.
92
%
.
Multiple
cell-
multiple
flask
mosaicism
usually
was
found
in
fetal
or
infant
tissues
at
delivery
or
elective
abortion
.
Most
multiple
cell-
multiple
flask
mosaicism
involved
sex
chromosomes
and
was
either
45
,
X
/
46
,
XY
or
45
,
X
/
46
,
XX
.
Except
for
one
fetus
with
45
,
X
/
46
,
XX
and
an
aortic
coarctation
,
phenotypic
abnormalities
associated
with
sex
chromosome
mosaicism
were
not
found
in
these
patients
.
One
normal
boy
has
continued
to
show
45
,
X
mosaicism
during
the
first
4
years
of
life
.
Autosome
abnormalities
found
in
multiple
cell-
multiple
flask
mosaicism
included
del
(
18
q
)
associated
with
fetal
anomalies
.
Apparently
normal
phenotypes
were
associated
with
prenatal
trisomy
17
,
two
de
novo
supernumerary
marker
chromosomes
,
and
monosomy
21
.
Since
an
aberrant
cell
line
present
in
only
one
primary
amniotic
fluid
cell
culture
was
occasionally
identified
from
another
amniocentesis
or
at
birth
,
multiple
cell-
single
flask
mosaicism
involving
a
sex
chromosome
or
a
viable
autosome
abnormality
can
not
be
assumed
to
be
an
in
vitro
event
.
Maternal
cell
contamination
,
which
was
found
in
0
.
49
%
of
amniocenteses
,
could
have
resulted
in
an
erroneous
diagnosis
of
fetal
sex
in
two
cases
if
cells
from
independent
culture
vessels
were
not
examined
.
Diseases
Validation
Diseases presenting
"phenotypic abnormalities associated with sex chromosome mosaicism were not found in these patients"
symptom
monosomy 21
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