Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.
[aniridia]
We
report
on
a
boy
presenting
submucous
cleft
palate
,
hydronephrosis
,
ventriculoseptal
defect
,
aniridia
,
and
developmental
delay
.
Additional
material
on
11
p
13
was
cytogenetically
visible
and
array
analyses
identified
a
duplicated
segment
on
15
q
25
-
26
chromosome
region
;
further
,
array
analyses
revealed
a
small
deletion
(
49
kb
)
at
11
p
13
region
involving
the
ELP
4
gene
and
a
duplication
at
8
p
23
.
1
.
Results
were
confirmed
with
both
molecular
and
molecular
cytogenetics
techniques
.
Possibilities
for
etiological
basis
of
clinical
phenotype
are
discussed
.
Diseases
Validation
Diseases presenting
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated