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Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.
[classical phenylketonuria]
A
polymorphic
short
tandem
repeat
(
STR
)
in
intron
3
(
Goltsov
et
al
.
,
1993
)
and
a
variable
number
of
tandem
repeats
(
Hind
III
-VNTR
)
flanked
by
two
constant
Hind
III
sites
(
Golstov
et
al
.
,
1992
)
have
been
recently
identified
in
the
human
phenylalanine
hydroxylase
(
PAH
)
gene
.
These
polymorphisms
are
easily
detected
by
the
polymerase
chain
reaction
(
PCR
)
and
gel
electrophoresis
.
We
report
on
the
use
of
these
two
novel
polymorphisms
in
three
Italian
families
with
pregnancies
at
risk
for
classical
phenylketonuria
(
PKU
)
.
A
carrier
status
for
PKU
was
ascertained
in
two
fetuses
;
the
third
family
refused
prenatal
diagnosis
,
although
informativeness
was
shown
to
be
complete
.
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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