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Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
[holt-oram syndrome]
Holt-
Oram
syndrome
,
the
major
"
heart
-
hand
"
syndrome
is
defined
by
the
association
of
radial
defects
or
triphalangeal
thumbs
and
septal
heart
defects
.
The
transmission
is
autosomal
dominant
and
the
causative
gene
has
been
shown
to
be
TBX
5
,
located
on
12
q
24
.
1
,
which
encodes
a
transcription
factor
.
Genetic
heterogeneity
has
been
suggested
by
several
reports
.
We
identified
a
14
(
q
23
.
3
approximately
24
.
2
q
31
.
1
)
deletion
in
a
boy
presenting
severe
bilateral
asymmetrical
radial
aplasia
,
congenital
heart
defects
,
and
developmental
delay
.
This
deletion
,
whose
size
could
be
estimated
to
be
9
.
6
-
13
.
7
Mb
,
was
shown
to
be
inherited
via
his
mother
's
interchromosomal
insertion
.
This
is
the
second
report
of
a
chromosome
14
interstitial
deletion
associated
with
clinical
features
of
Holt-
Oram
syndrome
.
These
observations
suggest
the
existence
of
a
new
"
heart
-
hand
"
locus
on
chromosome
14
q
.