Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom