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Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay.
[monosomy 21]
We
describe
a
female
patient
of
1
year
and
5
months
-old
,
referred
for
genetic
evaluation
due
to
neuropsychomotor
delay
,
hearing
impairment
and
dysmorphic
features
.
The
patient
presents
a
partial
chromosome
21
monosomy
(
q
11
.
2
→
q
21
.
3
)
in
combination
with
a
chromosome
3
p
terminal
monosomy
(
p
25
.
3
→
pter
)
due
to
an
unbalanced
de
novo
translocation
.
The
translocation
was
confirmed
by
fluorescence
in
situ
hybridization
(
FISH
)
and
the
breakpoints
were
mapped
with
high
resolution
array
.
After
the
combined
analyses
with
these
techniques
the
final
karyotype
was
defined
as
45
,
XX
,
der
(
3
)
t
(
3
;
21
)
(
p
25
.
3
;
q
21
.
3
)
dn
,
-
21
.
ish
der
(
3
)
t
(
3
;
21
)
(
RP
1
1
-
329
A
2
-
,
RP
1
1
-
439
F
4
-
,
RP
1
1
-
95
E
11
-
,
CTB-
63
H
24
+
)
.
arr
3
p
26
.
3
p
25
.
3
(
35
,
333
-
10
,
888
,
738
)
)
×
1
,
21
q
11
.
2
q
21
.
3
(
13
,
354
,
643
-
27
,
357
,
765
)
×
1
.
Analysis
of
microsatellite
DNA
markers
pointed
to
a
paternal
origin
for
the
chromosome
rearrangement
.
This
is
the
first
case
described
with
a
partial
proximal
monosomy
21
combined
with
a
3
p
terminal
monosomy
due
to
a
de
novo
unbalanced
translocation
.
Diseases
Validation
Diseases presenting
"neuropsychomotor delay"
symptom
monosomy 21
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