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[Osteosarcoma and ATR-16 syndrome: Association or coincidence?]
[alpha-thalassemia]
ATR-
16
syndrome
is
due
to
alterations
on
chromosome
16
p
13
.
3
,
and
is
usually
accompanied
by
alpha-thalassemia
,
mild
-
moderate
mental
retardation
,
dysmorphic
facial
features
,
skeletal
and
genitourinary
malformations
.
There
are
no
references
of
the
combination
of
ATR-
16
syndrome
and
osteosarcoma
in
the
literature
.
Osteosarcoma
usually
has
a
complex
karyotype
,
characterized
by
a
high
degree
of
heterogeneity
of
chromosomal
aberrations
,
among
which
is
the
involvement
of
chromosome
16
.
We
report
a
case
of
a
patient
with
ATR-
16
syndrome
diagnosed
with
femoral
osteosarcoma
.
Diseases
Validation
Diseases presenting
"characterized by a high degree of heterogeneity of chromosomal aberrations"
symptom
alpha-thalassemia
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