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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
"female patient"
symptom
achondroplasia
adrenal incidentaloma
alexander disease
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
coats disease
cohen syndrome
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
fabry disease
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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