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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
[cohen syndrome]
High
-resolution
microarray
technology
has
facilitated
the
detection
of
submicroscopic
chromosome
aberrations
and
characterization
of
new
microdeletion
syndromes
.
We
present
clinical
and
molecular
data
of
five
patients
with
previously
undescribed
overlapping
interstitial
deletions
involving
8
q
22
.
2
q
22
.
3
.
All
deletions
differ
in
size
and
breakpoints
.
Patients
1
-
4
carry
deletions
between
5
.
25
and
6
.
44
Mb
in
size
,
resulting
in
a
minimal
deletion
overlap
of
3
.
87
Mb
(
from
100
.
69
to
104
.
56
Mb
;
hg
18
)
comprising
at
least
25
genes
.
These
patients
share
similar
facial
dysmorphisms
with
blepharophimosis
,
telecanthus
,
epicanthus
,
flat
malar
region
,
thin
upper
lip
vermillion
,
down-turned
corners
of
the
mouth
,
and
a
poor
facial
movement
/
little
facial
expression
.
They
have
a
moderate
to
severe
developmental
delay
(
4
/
4
)
,
absent
speech
(
3
/
4
)
,
microcephaly
(
3
/
4
)
,
a
history
of
seizures
(
3
/
4
)
,
postnatal
short
stature
(
2
/
4
)
,
and
a
diaphragmatic
or
hiatal
hernia
(
2
/
4
)
.
Patient
5
was
diagnosed
with
a
smaller
deletion
of
about
1
.
92
Mb
(
containing
nine
genes
)
localized
within
the
deletion
overlap
of
the
other
four
patients
.
Patient
5
shows
a
different
facial
phenotype
and
a
less
severe
mental
retardation
.
In
Patients
1
-
4
,
COH
1
is
involved
in
the
deletion
(
in
total
or
in
part
)
,
but
none
of
them
showed
clinical
features
of
Cohen
syndrome
.
In
two
patients
(
Patients
2
and
4
)
,
ZFPM
2
(
also
called
FOG
2
,
a
candidate
gene
for
congenital
diaphragmatic
hernias
)
was
partly
deleted
.
We
suggest
that
patients
with
a
microdeletion
of
8
q
22
.
2
q
22
.
3
may
represent
a
clinically
recognizable
condition
characterized
particularly
by
the
facial
phenotype
and
developmental
delay
.
More
patients
have
to
be
evaluated
to
establish
a
phenotype-genotype
correlation
.
©
2011
Wiley
-
Liss
,
Inc
.
Diseases
Validation
Diseases presenting
"different facial phenotype"
symptom
cohen syndrome
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