The detection of acquired copy-number abnormalities (CNAs) and copy-neutral loss of
heterozygosity (CN-LOH) in neoplastic disorders by chromosomal microarray analysis …

Complex chromosomal aberrations (CCAs) can be detected in a substantial proportion of
AML and MDS patients, de novo as well as secondary or therapy‐related, and are …

Abstract Background and Aims Mosaic chromosomal alterations [mCAs] increase the risk for
haematopoietic malignancies and may be risk factors for several other diseases …

Chromosomal microarray analysis (CMA) is now established as the first‐tier cytogenetic
diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with …

Genomic-scale somatic copy number alterations in healthy humans are difficult to
investigate because of low occurrence rates and the structural variations' stochastic natures …

Simple Summary Chromosomal abnormalities and somatic mutations are found in patients
with myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms …

Inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of diseases
caused by pathogenic germline variants in key pathways associated with haematopoiesis …

The genome of each cell in the human body is constantly under assault from a plethora of
exogenous and endogenous processes that can damage DNA. If not successfully repaired …

During the past five years, copy number variation (CNV) has emerged as a highly prevalent
form of genomic variation, bridging the interval between long-recognised microscopic …

Molecular karyotyping has revealed that microdeletions/duplications in the human genome
are a major cause of multiple congenital anomalies associated with mental retardation …