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Prenatal diagnosis of familial ring 21 chromosome.
[monosomy 21]
Ring
chromosome
21
is
a
rare
chromosome
anomaly
often
associated
with
mental
retardation
and
dysmorphic
features
.
Less
commonly
,
the
ring
chromosome
can
be
familial
and
associated
with
a
normal
phenotype
.
Phenotypically
normal
female
carriers
,
however
,
are
at
increased
risk
of
having
children
with
Down
syndrome
,
mosaic
monosomy
21
,
and
variable
duplication
or
deletion
of
chromosome
21
.
Because
of
the
relative
mitotic
and
meiotic
instability
of
ring
chromosomes
,
abnormal
cytogenetic
findings
encountered
during
prenatal
diagnosis
may
not
reflect
the
true
genetic
status
of
the
fetus
.
This
is
a
report
of
a
phenotypically
normal
female
carrier
of
a
familial
ring
21
chromosome
.
Prenatal
diagnosis
on
her
twin
pregnancy
revealed
a
mosaic
46
,
XX
,
r
(
21
)
(
p
13
;
q
22
)
(
77
per
cent
)
/
45
,
XX
,
-
21
in
one
fetus
and
a
normal
male
karyotype
in
the
second
.
The
pregnancy
was
carried
to
term
.
Both
infants
are
completely
normal
,
with
a
non-mosaic
ring
21
karyotype
from
the
lymphocytes
of
one
twin
.
The
diagnostic
uncertainty
and
problematic
genetic
counselling
related
to
fetal
cytogenetic
abnormalities
are
the
subjects
of
this
report
.
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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