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"Compensatory" uniparental disomy of chromosome 21 in two cases.
[monosomy 21]
Two
cases
of
growth
failure
,
microcephaly
,
facial
dysmorphism
,
muscular
hypertonia
,
and
severe
psychomotor
retardation
are
described
.
At
birth
,
both
cases
had
cytogenetic
mosaicism
in
lymphocytes
and
skin
fibroblasts
,
in
case
1
ring
chromosome
21
and
monosomy
21
and
in
case
2
,
deletion
of
chromosome
21
and
monosomy
21
.
At
a
later
age
the
lymphocyte
karyotype
changed
almost
completely
to
46
,
XX
,
but
the
fibroblast
karyotype
remained
as
before
.
DNA
polymorphism
analysis
described
elsewhere
indicated
that
the
46
,
XX
lymphocytes
contained
two
identical
chromosomes
21
(
isodisomy
)
,
in
case
1
inherited
from
the
father
and
in
case
2
from
the
mother
.
The
isodisomy
was
the
result
of
duplication
of
a
chromosome
in
mitosis
after
the
loss
of
the
homologous
abnormal
chromosome
(
"
compensatory
isodisomy
"
)
.
We
report
here
that
this
cytogenetic
mechanism
can
result
in
false
normal
cytogenetic
findings
.
The
phenotypes
were
attributed
to
the
cells
with
monosomy
21
in
case
1
and
to
the
deletion
and
monosomy
of
chromosome
21
in
case
2
.
Diseases
Validation
Diseases presenting
"homologous abnormal chromosome"
symptom
monosomy 21
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