Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"previously reported patients"
symptom
dentin dysplasia
familial mediterranean fever
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
triple a syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
