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Chromosomal karyotype analysis is crucial for diagnosing and managing hematologic malignancies, yet inconsistent protocols compromise reliability. To standardize practices, this consensus integrates international guidelines (WHO, ICC, ELN) with clinical expertise, providing evidence-based recommendations for specimen collection, cell culture, chromosome harvesting, banding techniques, karyotype analysis, and reporting. By establishing uniform operational standards, this initiative seeks to mitigate variability, improve detection rates, and support precision medicine in hematologic malignancies.
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http://dx.doi.org/10.1016/j.cca.2025.120507 | DOI Listing |
ACS Omega
September 2025
Genetics and Cellular Biology Laboratory, Center for Biodiversity Studies, Federal University of Pará, Belém 66075-110, Pará, Brazil.
Histone genes contain sequences responsible for coding five types of proteins (H1, H2A, H2B, H3, and H4) that are of great importance for chromatin organization. Their transcriptional regulation through DNA methylation has been little studied. Testudines are ancient reptiles with high cytogenetic diversity (2 = 26-68), with a large number of histone gene loci in their karyotype.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.
Mol Genet Genomic Med
September 2025
Cytogenetic Laboratories, Shahid Beheshti Hospital, Hamadan University of Medical Sciences, Hamadan, Iran.
Background: Recurrent Implantation Failure (RIF) is defined as the inability to establish pregnancy despite high-quality embryo transfer after the application of at least three consecutive in vitro fertilization (IVF)/intracytoplasmic sperm injection-embryo transfer procedures. Chromosomal abnormalities are one of the primary reasons for pregnancy failure, miscarriage, and birth defects in both natural conception and IVF pregnancies. This study was to evaluate the incidence of chromosomal abnormalities in peripheral blood samples from 100 couples who experienced RIF.
View Article and Find Full Text PDFPLoS One
September 2025
Department of Haematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Acute myeloid leukaemia-normal karyotype (AML-NK) exhibits heterogeneity in expression profiles, influencing the treatment response and survival outcome. Transcriptome sequencing allows a comprehensive analysis of differentially expressed genes (DEGs) and dysregulated pathways in AML-NK, shedding light on the molecular mechanisms and their implications in patients' management. DEG analyses utilising transcriptome sequencing were conducted using a customised DESeq2 pipeline on 51 AML-NK patients at diagnosis (DX), 12 AML-NK patients who attained first remission (CR1) and 12 healthy controls.
View Article and Find Full Text PDFDNA abnormalities characterized by cytogenetic imaging at the single cell resolution, i.e. karyotyping, have long served as cancer diagnostic and prognostic biomarkers.
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