Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
[monosomy 21]
Partial
monosomy
21
has
been
reported
,
but
the
phenotypes
described
are
variable
with
location
and
size
of
the
deletion
.
We
present
2
patients
with
a
partially
overlapping
microdeletion
of
21
q
22
and
a
striking
phenotypic
resemblance
.
They
both
presented
with
severe
psychomotor
delay
,
behavioral
problems
,
no
speech
,
microcephaly
,
feeding
problems
with
frequent
regurgitation
,
idiopathic
thrombocytopenia
,
obesity
,
deep
set
eyes
,
down
turned
corners
of
the
mouth
,
dysplastic
ears
,
and
small
chin
.
Brain
MRI
showed
cerebral
atrophy
mostly
evident
in
frontal
and
temporal
lobes
,
widened
ventricles
and
thin
corpus
callosum
in
both
cases
,
and
in
one
patient
evidence
of
a
migration
disorder
.
The
first
patient
also
presented
with
epilepsy
and
a
ventricular
septum
defect
.
The
second
patient
had
a
unilateral
Peters
anomaly
.
Microarray
analysis
showed
a
partially
overlapping
microdeletion
spanning
about
2
.
5
Mb
in
the
21
q
22
.
1
-
q
22
.
2
region
including
the
DYRK
1
A
gene
and
excluding
RUNX
1
.
These
patients
present
with
a
recognizable
phenotype
specific
for
this
21
q
22
.
1
-
q
22
.
2
locus
.
We
searched
the
literature
for
patients
with
overlapping
deletions
including
the
DYRK
1
A
gene
,
in
order
to
define
other
genes
responsible
for
this
presentation
.
Diseases
Validation
Diseases presenting
"widened ventricles and thin corpus callosum in both cases"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom