Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.
[cowden syndrome]
We
report
on
a
patient
with
a
contiguous
interstitial
germline
deletion
of
chromosome
10
q
23
,
encompassing
BMPR
1
A
and
PTEN
,
with
clinical
manifestations
of
juvenile
polyposis
and
minor
symptoms
of
Cowden
syndrome
(
CS
)
and
Bannayan-
Riley
-
Ruvalcaba
syndrome
(
BRRS
)
.
The
patient
presented
dysmorphic
features
as
well
as
developmental
delay
at
the
age
of
5
months
.
Multiple
polyps
along
all
parts
of
the
colon
were
diagnosed
at
the
age
of
3
years
,
following
an
episode
of
a
severe
abdominal
pain
and
intestinal
bleeding
.
The
high
-resolution
comparative
genomic
hybridisation
revealed
a
3
.
7
-
Mb
deletion
within
the
10
q
23
chromosomal
region
:
86
,
329
,
859
-
90
,
035
,
024
.
The
genotyping
with
four
polymorphic
microsatellite
markers
confirmed
a
de
novo
10
q
deletion
on
the
allele
with
a
paternal
origin
,
encompassing
both
PTEN
and
BMPR
1
A
genes
.
The
karyotype
analysis
additionally
identified
a
balanced
translocation
involving
chromosomes
5
q
and
7
q
,
and
an
inversion
at
chromosome
2
,
i
.
e
.
46
,
XY
,
t
(
5
;
7
)
(
q
13
.
3
-
q
36
)
,
inv
(
2
)
(
p
25
q
34
)
.
Although
many
genetic
defects
were
detected
,
it
is
most
likely
that
the
10
q
23
deletion
is
primarily
the
cause
for
the
serious
phenotypic
manifestations
.
The
current
clinical
findings
and
deletion
of
BMPR
1
A
indicate
a
diagnosis
of
severe
juvenile
polyposis
,
but
the
existing
macrocephaly
and
PTEN
deletion
also
point
to
either
CS
or
BRRS
,
which
can
not
be
ruled
out
at
the
moment
because
of
their
clinical
manifestation
later
in
life
and
the
de
novo
character
of
the
deletion
.
The
deletion
detected
in
our
patient
narrows
the
genetic
region
deleted
in
all
reported
cases
with
juvenile
polyposis
by
0
.
04
Mb
from
the
telomeric
side
,
mapping
it
to
the
region
chr
10
:
88
.
5
-
90
.
03
Mb
(
GRCh
37
/
hg
19
)
,
with
an
overall
length
of
1
.
53
Mb
.
Diseases
Validation
Diseases presenting
"multiple polyps along all parts of the colon"
symptom
cowden syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom