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Mosaic trisomy 21/monosomy 21 in a living female infant.
[monosomy 21]
Many
autosomal
monosomies
are
presumed
to
end
in
arrested
growth
in
the
first
few
mitoses
,
prior
even
to
the
time
of
implantation
,
with
possibly
some
proceeding
to
the
stage
of
occult
abortion
.
The
single
exception
may
be
monosomy
21
,
although
this
has
been
questioned
,
with
most
earlier
reports
of
monosomy
21
recently
re
-interpreted
as
being
due
to
an
unbalanced
translocation
involving
chromosome
21
.
Here
we
report
a
female
infant
with
a
mosaic
trisomy
2
1
/
monosomy
21
karyotype
.
While
the
karyotype
46
,
XX
,
i
(
21
)
(
q
10
)
is
detected
in
all
metaphases
investigated
in
lymphocytes
,
mosaicism
with
the
karyotype
46
,
XX
,
i
(
21
)
(
q
10
)
[
31
]
/
45
,
XX
,
-
21
[
12
]
is
seen
in
fibroblasts
from
a
skin
biopsy
.
Dysmorphic
facial
features
and
multiple
malformations
remarkably
resemble
cases
of
monosomy
21
that
have
been
described
in
the
literature
.
This
suggests
a
dominant
phenotypic
effect
of
loss
of
one
chromosome
21
.
Detailed
clinical
description
,
results
of
gene
dosage
studies
,
and
cytogenetic
analysis
will
be
presented
.
Diseases
Validation
Diseases presenting
"stage of occult abortion"
symptom
monosomy 21
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