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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
"peters anomaly"
symptom
22q11.2 deletion syndrome
aniridia
kabuki syndrome
monosomy 21
This symptom has already been validated