Genes,
Journal Year:
2024,
Volume and Issue:
15(5), P. 559 - 559
Published: April 27, 2024
Cytogenetic
studies
are
essential
in
the
diagnosis
and
follow
up
of
patients
with
bone
marrow
failure
syndromes
(BMFSs),
but
obtaining
good
quality
results
is
often
challenging
due
to
hypocellularity.
Optical
Genome
Mapping
(OGM),
a
novel
technology
capable
detecting
most
types
chromosomal
structural
variants
(SVs)
at
high
resolution,
being
increasingly
used
many
settings,
including
hematologic
malignancies.
Herein,
we
compared
conventional
cytogenetic
techniques
OGM
20
diverse
BMFSs.
Twenty
metaphases
for
karyotype
were
only
obtained
three
subjects
(15%),
no
SVs
found
any
samples.
One
patient
culture
showed
gain
chromosome
1q
by
fluorescence
situ
hybridization,
which
was
confirmed
OGM.
In
contrast,
provided
all
subjects,
detected
14
them
(70%),
mostly
corresponding
cryptic
submicroscopic
alterations
not
observed
standard
techniques.
Therefore,
emerges
as
powerful
tool
that
provides
complete
evaluable
hypocellular
BMFSs,
reducing
multiple
tests
into
single
assay
overcoming
some
main
limitations
Furthermore,
addition
confirming
abnormalities
techniques,
new
beyond
their
detection
limits.
Genetics and Clinical Genomics,
Journal Year:
2024,
Volume and Issue:
unknown, P. 63 - 73
Published: Aug. 31, 2024
Reportamos
el
caso
de
una
paciente
con
un
cuadro
grave
falla
multisistémica
en
la
cual
se
detectaron
cambios
cromosómicos
masivos
estado
mosaico,
que
consideran
estarían
asociados
a
posible
patología
fondo:
síndrome
linfoproliferativo
Células
T.
La
también
presentaba
Eritrodermia
causa
desconocida
instaurado
varios
años
antes,
declive
progresivo
su
condición
física.
El
espectro
las
manifestaciones
clínicas
presenta
entonces
como
cutáneo
inespecífico
paraneoplásico
evolución
y
hallazgos
cromoanagénesis
última
fase
proceso
mórbido
linfoproliferativo.
Las
nuevas
técnicas
análisis
genético
permiten
obtener
datos
para
aclarar
los
procesos
diagnósticos
e
identificar
desorganización
información
genética
considera
responsable
neoplásicos.
Genes,
Journal Year:
2024,
Volume and Issue:
15(10), P. 1254 - 1254
Published: Sept. 26, 2024
The
rat
osteosarcoma
cell
line
UMR-106
is
widely
used
for
the
study
of
bone
cancer
biology
but
it
has
not
been
well
characterized
with
modern
genomic
methods.
