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Molecular and cytogenetic investigation of complex tissue-specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype.
[monosomy 21]
Several
recent
molecular
studies
have
suggested
that
the
clinical
phenotype
of
Down
syndrome
may
be
due
to
triplication
of
21
q
22
[
McCormick
et
al
.
,
1989
]
as
initially
suggested
by
Niebuhr
[
1974
]
,
and
perhaps
just
21
q
22
.
2
[
Korenberg
et
al
.
,
1989
,
1990
;
Rahmani
et
al
.
,
1989
]
.
Recently
,
we
studied
a
patient
with
a
phenotype
inconsistent
with
Down
syndrome
,
whose
lymphocyte
karyotype
on
several
occasions
detected
only
46
,
XX
,
-
21
,
+
dic
(
21
)
(
qter----
p
11
:
:
p
11
-
-
-
-
qter
)
.
Combined
karyotype
and
molecular
studies
on
both
lymphocytes
and
fibroblasts
allowed
correct
identification
of
the
abnormality
as
a
complex
monosomy
/
trisomy
21
mosaicism
involving
a
marker
derived
from
idic
(
21
)
(
p
11
)
,
and
probable
assignment
of
a
maternal
origin
for
the
error
(
s
)
.
The
patient
's
phenotype
was
found
to
be
most
consistent
with
monosomy
21
.
Detailed
study
of
our
patient
underscores
(
1
)
the
need
for
confirmation
that
there
is
phenotype
/
karyotype
correlation
and
(
2
)
the
usefulness
of
molecular
analyses
to
complement
the
cytogenetic
interpretation
of
marker
chromosomes
.
Diseases
Validation
Diseases presenting
"maternal origin for the error"
symptom
monosomy 21
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