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A random Abstract
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A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.
[monosomy 21]
Monosomy
21
is
a
very
rare
chromosomal
abnormality
.
At
least
45
patients
with
partial
deletion
involving
21
q
11
have
been
reported
.
Here
,
we
report
a
Japanese
boy
who
presented
with
pre-
and
postnatal
growth
delays
,
psychomotor
developmental
delay
,
microcephaly
,
and
iris
coloboma
.
Cytogenetic
analysis
revealed
a
de
novo
1
.
4
-
Mb
deletion
at
21
q
22
.
11
containing
19
protein-coding
RefSeq
genes
.
We
compared
the
clinical
phenotypes
between
the
present
patient
and
16
previously
reported
patients
with
a
deleted
region
associated
with
postnatal
growth
delay
and
psychomotor
developmental
delay
.
Interestingly
,
ITSN
1
was
the
only
gene
deleted
or
disrupted
in
all
cases
;
this
gene
is
known
to
be
associated
with
intellectual
disability
.
Microcephaly
and
brain
structural
abnormalities
including
polymicrogyria
and
agenesis
/
hypoplasia
of
the
corpus
callosum
may
also
result
from
haploinsufficiency
of
ITSN
1
,
highlighting
its
clinical
significance
for
the
neurological
features
of
patients
with
monosomy
21
.
Diseases
Validation
Diseases presenting
"agenesis/hypoplasia of the corpus callosum"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
monosomy 21
pyruvate dehydrogenase deficiency
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