Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
"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
"skin fibroblasts"
symptom
child syndrome
cowden syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom