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Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
[cohen syndrome]
A
syndrome
of
microcephaly
,
progressive
postnatal
growth
deficiency
,
and
mental
retardation
was
observed
in
two
brothers
and
their
cousin
from
a
multiply
consanguineous
kindred
of
Lebanese
descent
.
Hypotonia
,
chorioretinal
dystrophy
,
and
myopia
were
also
identified
.
The
severity
of
the
condition
varied
among
the
closely
related
patients
.
Because
of
absence
of
a
distinctive
facial
appearance
,
the
degree
of
mental
retardation
,
and
short
stature
,
the
initially
considered
clinical
diagnosis
of
Cohen
syndrome
was
withdrawn
and
a
novel
genetic
entity
was
assumed
.
Homozygosity
mapping
in
this
family
assigned
the
gene
to
a
26
.
8
-
cM
region
on
the
chromosome
band
8
q
21
.
3
-
22
.
1
,
between
the
microsatellites
at
D
8
S
270
and
D
8
S
514
.
The
maximum
two
-point
LOD
score
was
found
for
marker
at
D
8
S
267
(
Zmax
=
3
.
237
at
Omax
=
0
.
00
)
.
Intriguingly
enough
,
the
identified
gene
region
overlaps
the
refined
gene
region
for
Cohen
syndrome
(
COH
1
)
[
Kolehmainen
et
al
.
,
1997
:
Euro
J
Hum
Genet
5
:
206
-
213
]
.
This
fact
encourages
the
hypothesis
that
the
described
kindred
segregates
for
a
variant
of
Cohen
syndrome
and
suggests
a
redefinition
of
its
phenotype
.
Diseases
Validation
Diseases presenting
"and myopia were also identified"
symptom
cohen syndrome
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