Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.
[monosomy 21]
We
describe
a
girl
with
microcephaly
,
short
stature
,
coarse
face
,
severe
growth
and
developmental
delay
,
seizures
,
hypertonia
,
bilateral
flexion
contractures
of
the
knees
,
and
a
de
novo
21
;
21
translocation
trisomy
21
in
peripheral
blood
lymphocytes
.
Fluorescence
in
situ
hybridization
(
FISH
)
analysis
confirmed
the
trisomy
21
translocation
using
whole
chromosome
painting
probe
21
(
WCP
21
)
.
Chromosome
analysis
which
was
also
performed
on
skin
fibroblasts
and
revealed
mosaicism
for
a
translocation
trisomy
21
cell
line
(
22
.
3
%
)
as
well
as
a
second
cell
line
consisting
of
one
normal
chromosome
21
and
a
small
ring
chromosome
21
derived
from
the
translocation
21
q
21
q
(
61
%
)
and
a
third
line
consisting
of
monosomy
21
(
16
.
7
%
)
.
FISH
analyses
by
LS
121
probe
for
the
critical
(
21
q
22
.
2
-
22
.
3
)
region
of
Down
syndrome
(
DS
)
on
interphase
blood
cells
resulted
with
30
%
two
signals
and
70
%
three
signals
,
skin
fibroblasts
showed
84
%
single
signal
,
9
%
two
signals
and
7
%
three
signals
.
The
size
of
ring
chromosome
21
in
skin
fibroblasts
was
very
small
and
probably
there
was
a
large
,
more
proximally
located
deletion
including
chromosome
21
q
22
band
.
We
consider
that
the
atypical
DS
phenotype
of
the
patient
originated
from
the
small
ring
chromosome
21
and
the
monosomy
21
in
the
skin
fibroblasts
and
other
tissues
not
available
for
analysis
.
Therefore
,
the
clinical
findings
of
the
patient
were
most
similar
to
monosomy
21
mosaicism
syndrome
.
Diseases
Validation
Diseases presenting
"revealed mosaicism for a translocation trisomy 21 cell line"
symptom
monosomy 21
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom