Rare Diseases Symptoms Automatic Extraction
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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
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated