Rare Diseases Symptoms Automatic Extraction
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Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
[monosomy 21]
We
studied
a
child
with
apparent
monosomy
of
chromosome
21
.
Cytogenetic
,
FISH
and
microsatellite
analyses
revealed
a
45
,
X
,
-
21
,
+
der
(
X
)
t
(
X
;
21
)
(
q
25
;
q
21
.
1
)
karyotype
resulting
from
a
de
novo
,
unbalanced
,
X
;
21
non-reciprocal
translocation
of
paternal
origin
,
with
partial
monosomy
of
chromosomes
21
and
X
.
An
extreme
,
skewed
X-
inactivation
pattern
of
the
der
(
X
)
chromosome
was
demonstrated
.
Skewed
inactivation
probably
accounted
for
a
mild
phenotype
with
respect
to
Xq
25
-
-
>
qter
deletion
while
propagation
of
inactivation
to
the
adjacent
21
q
region
may
account
for
mild
clinical
features
associated
to
distal
21
q
monosomy
.
Diseases
Validation
Diseases presenting
"mild phenotype"
symptom
alpha-thalassemia
cowden syndrome
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
wolf-hirschhorn syndrome
zellweger syndrome
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