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A random Abstract
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Prenatal detection of two different monosomic cell lines by chorionic villus sampling.
[monosomy 21]
We
present
a
prenatal
case
of
mosaicism
with
at
least
two
monosomy
cell
lines
:
one
with
monosomy
21
(
45
,
XY
,
-
21
)
and
one
missing
the
Y
(
45
,
X
)
and
a
possible
third
46
,
XY
in
chorionic
villus
cell
culture
.
Cytogenetic
studies
were
initiated
following
the
ultrasound
detection
at
11
weeks
of
a
large
cystic
hygroma
and
in
utero
growth
retardation
.
Spontaneous
fetal
demise
occurred
at
12
weeks
and
the
pregnancy
was
terminated
.
To
our
knowledge
,
this
is
the
first
report
of
two
different
monosomic
cell
lines
found
in
chorionic
villus
cells
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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