Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"multiple malformations remarkably resemble cases of monosomy 21 that have been described in the literature"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom