Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).
[wolf-hirschhorn syndrome]
We
present
prenatal
diagnosis
of
de
novo
proximal
interstitial
deletion
of
chromosome
4
p
(
4
p
15
.
2
→
p
14
)
and
molecular
cytogenetic
characterization
of
the
deletion
using
uncultured
amniocytes
.
We
review
the
phenotypic
abnormalities
of
previously
reported
patients
with
similar
proximal
interstitial
4
p
deletions
,
and
we
discuss
the
functions
of
the
genes
of
RBPJ
,
CCKAR
,
STIM
2
,
PCDH
7
and
ARAP
2
that
are
deleted
within
this
region
.
