Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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De novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
[monosomy 21]
In
situ
hybridization
was
used
to
characterize
an
undetected
chromosome
translocation
in
a
child
whose
metaphase
chromosome
analysis
in
peripheral
blood
and
in
skin
culture
revealed
apparent
monosomy
21
.
The
cytogenetic
study
revealed
45
chromosomes
,
and
no
other
structural
anomalies
were
detected
with
G
banding
.
In
situ
hybridization
of
chromosome
21
-
specific
probes
to
metaphase
chromosomes
and
reverse
banding
from
the
proband
showed
a
de
novo
translocation
between
chromosome
5
and
chromosome
21
.
Diseases
Validation
Diseases presenting
"peripheral blood"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
aniridia
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
monosomy 21
oligodontia
omenn syndrome
scrub typhus
severe combined immunodeficiency
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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