Rare Diseases Symptoms Automatic Extraction
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Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
[cohen syndrome]
Here
we
report
on
a
de
novo
apparently
balanced
reciprocal
5
q
;
7
p
translocation
in
a
15
-
year
-old
girl
with
apparent
Cohen
syndrome
characterized
by
hypotonia
,
obesity
,
multiple
congenital
anomalies
,
and
mental
retardation
.
This
case
may
indicate
that
the
gene
for
Cohen
syndrome
is
at
5
q
33
.
1
or
7
p
15
.
1
.