Secondary chondrosarcoma is a malignant chondroid tumor arising in a benign precursor. Synovial chondromatosis is a benign chondroid lesion that rarely transforms to chondrosarcoma. We present the case of a 54-year-old male with the diagnosis of low-grade secondary peripheral chondrosarcoma developed in the context of synovial chondromatosis. Cytogenetics revealed a novel aberration t(1;14)(q23...

Chronic lymphocytic leukemia (CLL) has consistent 13q chromosomal abnormalities detected by conventional cytogenetics. Using interphase cytogenetics we show deletion of a l-megabase 13q12.3 locus, encompassing the 6RCAZ gene, in 80% of 35 CLL cases studied. Homozygous deletion of 6RCA.2, located within the minimal deletion consensus, was detected in a significant population of cells in 60% of ...

Genomic instability is a hallmark of cancer, and it is well-known that in several cancers the karyotype is unstable and rapidly evolving. Molecular cytogenetics has contributed to the description and interpretation of cancer karyotypes, in particular through multicolor FISH approaches which can define even complex chromosome rearrangements. The introduction of genome-wide methods has made avail...

Introduction: Neurodevelopmental disorders (NDD) form a complex set of differential diagnoses in clinical practice. Research tools, neuroimaging, cytogenetics, and next-generation sequencing (NGS) aid elucidation. Still, the complexity phenotypes, absence local genetic data leading to many variants uncertain significance (VUS) barriers accessing such tests are limiting factors.

We report here several experiences of interphase cytogenetics, using fluorescence in situ hybridization (FISH) technique, for the detection of chromosome aberrations. FISH, using alpha satellite specific probes of 18, X, Y chromosomes, was done in interphase nuclei from peripheral blood of patients with Edwards' syndrome, Klinefelter's syndrome and Turner's syndrome with healthy male and female...

Abstract Background Autologous stem cell transplantation (auto‐SCT) is a widely used treatment option in multiple myeloma (MM) patients. The optimal graft cellular composition not known. Study design and methods Autograft was analyzed after freezing by flow cytometry 127 MM patients participating prospective multicenter study. impact of on hematologic recovery outcome auto‐SCT evaluated. Result...