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Complete monosomy mosaic of chromosome 21: case report and review of literature.
[monosomy 21]
Complete
monosomy
mosaic
of
chromosome
21
is
a
rare
disorder
.
The
syndromic
features
are
highly
variable
.
This
study
describes
a
girl
of
Mexican
origin
with
complete
monosomy
21
in
mosaicism
with
novel
findings
,
including
cortical
atrophy
,
macrostomia
,
pectum
excavatum
and
immune
deficiencies
.
Parental
karyotypes
were
normal
.
FISH
analysis
with
probes
from
21
q
22
.
1
-
q
22
.
2
region
and
centromere
of
X
DNA
probe
was
performed
on
peripheral
blood
lymphocytes
whereas
21
q
22
.
1
-
q
22
.
2
and
21
q
,
4
p
,
4
q
subtelomeric
DNA
probes
were
tested
in
fibroblasts
.
We
propose
that
the
monosomy
21
mosaicism
is
the
cause
of
the
survival
of
children
with
more
than
4
months
of
age
.
Diseases
Validation
Diseases presenting
"peripheral blood lymphocytes"
symptom
monosomy 21
omenn syndrome
pyruvate dehydrogenase deficiency
scrub typhus
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