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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
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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