… cytogenetics with single nucleotide polymorphism arrays can improve the diagnostic yield and identify prognosis more precisely in myelodysplastic syndromes

Y Qin, H Zhang, L Feng, H Wei, Y Wu, C Jiang… - Annals of …, 2022 - Taylor & Francis
Single-nucleotide polymorphism arrays (SNP-A) karyotyping … progression to acute myeloid
leukaemia (AML). Diagnosis and … CN-LOH as either the sole abnormality or as a concurrent …

… for the simultaneous detection of both gene mutations and large chromosomal abnormalities in patients with myelodysplastic syndromes (MDS) and related myeloid …

…, A Sanjuan-Pla, MA Sanz, G Sanz, F Sole… - Cancers, 2021 - mdpi.com
… include abnormalities of chromosome 7, trisomy 8 and 21, −… karyotype might lead to an
inadequate estimation of the prognostic risk. Single-nucleotide polymorphism (SNP) array-based

Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients

I Scarpelli, VB Stalder, G Tsilimidos… - … , Chromosomes and …, 2023 - Wiley Online Library
trisomy 8 was identified in nine cases as the sole aberration. … karyotype, five resulted in
a discordant cytogenetic IPSS-R resulting in a downgraded cytogenetic IPSS-R array-based

Cytogenetic and Genetic Advances in Myelodysplasia Syndromes

M Bendari, N Khoubila - Cytogenetics-Classical and Molecular …, 2021 - books.google.com
chromosome 5q and 7q, trisomy 8, and complex karyotypes. New genomic technologies have
been developted, like single-nucleotide polymorphism … by array-based karyotyping and/or …

Delineation of molecular lesions in acute myeloid leukemia patients at diagnosis: integrated next generation sequencing and cytogenomic studies

SM Papuc, A Erbescu, D Cisleanu, D Ozunu, C Enache… - Genes, 2021 - mdpi.com
… and molecular cytogenetics, array-based comparative genomic … from gross chromosomal
anomalies to single nucleotide variants… missed by routine classical karyotyping (eg, KMT2A and …

Next generation cytogenetics in myeloid hematological neoplasms: Detection of CNVs and translocations

M Chicano, D Carbonell, J Suárez-González, S Lois… - Cancers, 2021 - mdpi.com
… only by cytogenetics (mainly trisomy 8), and another eight only … of normal karyotype (3/12)
or not available karyotype (3/12). … platelet disorders with propensity to acute myeloid leukemia […

The complex karyotype in hematological malignancies: a comprehensive overview by the Francophone Group of Hematological Cytogenetics (GFCH)

F Nguyen-Khac, A Bidet, A Daudignon… - Leukemia, 2022 - nature.com
… Yunis et al. reported that in myelodysplastic syndromes, the … to acute myeloid leukemia (AML)
in the current IPSS-R [5, 8, 10]. … can be detected by single-nucleotide polymorphism (SNP) …

Genetics of myelodysplastic syndromes

C Saygin, LA Godley - Cancers, 2021 - mdpi.com
abnormalities detected by conventional karyotyping, which … clinically, single-nucleotide
polymorphism (SNP) array-based … -risk MDS with trisomy 8 and frameshift mutations in DDX41 …

Cytogenetics in the genomic era

I Granada, L Palomo, N Ruiz-Xivillé, M Mallo… - Best Practice & Research …, 2020 - Elsevier
… targeting unbalanced abnormalities (eg in CLL or MM) with array-based copy number …
presence of trisomy 8, abnormalities of chromosome 7, der(3q), CK and monosomal karyotypes is …

Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA

N Coccaro, L Anelli, A Zagaria, F Tarantini, C Cumbo… - Diagnostics, 2023 - mdpi.com
myelodysplastic syndromes (MDSs), acute myeloid leukemia (AML), and … karyotyping,
FISH, SNP-array, RNA-Seq, and MLPA. Several recurrent categories of chromosomal anomalies