by Maria Bisba  , Eirini Louizou  , Konstantinos Tzanakis  , Thomas Liehr  and Spiros Vittas

Received: 21 January 2026;  Published: 21 August 2026;  doi: 10.21926/obm.genet.2603353

Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-level mosaic sSMC (8%) was detected during prenatal testing is reported. The sSMC was found in 12 out of 150 metaphases examined by conventional karyotype, followed by molecular cytogenetic analyses ( [...]

by Elisavet Kouvidi  , Georgios Boutsikas  , Marina Kalomiraki  , Maria Devetzoglou  , Foteini Drimaki  , Ioannis Anagnostopoulos  and Evangelia-Faidra Triantafyllou

Received: 31 December 2025;  Published: 17 August 2026;  doi: 10.21926/obm.genet.2603352

The genetic hallmark of Acute promyelocytic leukemia (APL) is the balanced reciprocal translocation t(15;17)(q24;q21), resulting in the PML::RARα fusion gene. Although the majority of APL patients carry the typical t(15;17), variant translocations involving three or more chromosomes have also been described. We report a case of a 59-year-old man showing clinical, morphologic, laboratory, and immunophenotypic findings of APL. Cytogenetic analysis revealed a variant complex 4-point break-three-way translocation invol [...]

by Leena Rawal  and Vamshi Krishna Thamtam

Received: 15 April 2026;  Published: 10 August 2026;  doi: 10.21926/obm.genet.2603351

Acute myeloid leukemia (AML) represents a clinically and genetically heterogeneous group of hematologic malignancies. Among the less frequently encountered cytogenetic abnormalities are jumping translocations (JTs), in which a segment from a donor chromosome relocates to multiple recipient chromosomes. Although uncommon, these events have been described in association with clonal evolution and, in some cases, more aggressive disease behavior. Here, we describe a 49-year-old man who presented with fatigue and genera [...]

by Sarah Ahmed  , Marwa M. Mohammed  , Hiba Mohammed  , Sana Magzoub  and Mona Ellaithi

Received: 04 January 2026;  Published: 03 August 2026;  doi: 10.21926/obm.genet.2603350

Nasopharyngeal carcinoma (NPC) is a multifactorial malignancy influenced by genetic susceptibility and environmental exposures. The XRCC1 Arg399Gln (rs25487) polymorphism has been associated with NPC risk in several populations; however, evidence from African populations remains scarce. This study investigated the association between the XRCC1 Arg399Gln polymorphism and NPC susceptibility in a Sudanese population. A case-control study was conducted including 71 patients with histopathologically confirmed NPC and 71 [...]

by Manel Chalbi  , Rahma Jrad  , Soumaya Kachti  and Mohamed Ali Chemli

Received: 20 December 2025;  Published: 19 July 2026;  doi: 10.21926/obm.genet.2603349

Epidermolysis bullosa (EB) is a group of rare, genetically determined disorders characterized by blister formation, skin fragility, and mucocutaneous blisters and erosions following minimal trauma. Oral manifestations and dental involvement of EB vary in frequency and severity depending on the subtype. Dental management of children with EB is complex due to the high risk of iatrogenic soft-tissue injury and requires strict adherence to evidence-based preventive and minimally invasive protocols. Published clinical p [...]

by Elham Alimoradi  , Elaheh Emadi  , Parham Nejati  , Fatemeh Molavi  , Mohamad Javad Alibakhshi  and Reza Alibakhshi

Received: 23 April 2026;  Published: 15 July 2026;  doi: 10.21926/obm.genet.2603348

SLITRK6 is essential for inner-ear neuronal survival and retinal development, and pathogenic variants in this gene cause syndromic sensorineural hearing loss (HL) with high myopia. This study aimed to identify the genetic basis of HL and myopia in a consanguineous Iranian family with two affected children and to characterize the molecular consequences of the detected variant. One sibling with bilateral congenital HL and myopia was evaluated using whole-exome sequencing (WES). Common variants (MAF >1%) were excluded [...]

by Elimkhan Jafarov  , Aladdin Tagiyev  , Mehriban Velijanova  , İntizar Zeynalova  , Gunel Gojayeva  , Anar Jafarov  , Lala Allahverdiyeva  , Shabnam Huseynova  and Nurlana Eminova

Received: 25 March 2026;  Published: 10 July 2026;  doi: 10.21926/obm.genet.2603347

Seeds of cotton varieties Ganja-160, Ganja-182, and Ganja-183 were γ-irradiated with the isotope Co-60 at doses of 5, 10, 50, 100, 200, 300, and 400 Gy (at a dose rate of 0.342 rad/sec). Irradiated seeds, along with non-irradiated seeds (controls), were sown at the experimental base of the Center for Agricultural Sciences under open-field conditions in four replicates. The aim was to obtain mutant cotton lines with high quality and improved technological parameters, as well as resistance to various diseases and ext [...]

by Minh Trong Quang  and Minh Nam Nguyen

Received: 10 March 2026;  Published: 01 July 2026;  doi: 10.21926/obm.genet.2603346

Prostate cancer (PCa) is one of the most common malignancies among men worldwide, and early detection is critical for improving clinical outcomes. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis due to their stability in blood and association with tumor-related molecular alterations. In this study, machine learning (ML) methods were applied to large-scale circulating miRNA expression data to develop a diagnostic model for PCa detection. Serum miRNA expression pr [...]

by Frederick H. Silver  and Tanmay Deshmukh

Received: 21 February 2026;  Published: 07 June 2026;  doi: 10.21926/obm.genet.2602345

Skin cancer is a major disease that affects older subjects in the US. There are 56 million Americans 65 years and older in the US and the median age for melanoma diagnosis in the United States is 66 years. Each year 6 M patients are treated for skin cancer including basal cell carcinoma, squamous cell carcinoma, and melanoma. Both melanoma and squamous cell carcinoma can metastasize with melanoma being more likely to metastasize compared to squamous cell carcinoma and lead to death. The need to screen older subject [...]

by Stephanie Liana  , Ferdy Kurniawan Cayami  , Annang Giri Moelyo  , Ratna Dewi Artati  , Muhammad Faizi  , Nur Rochmah  , Rusdi Andid  , Yulisnawati Hasanah  , Aditiawati  and Agustini Utari

Received: 22 January 2026;  Published: 02 June 2026;  doi: 10.21926/obm.genet.2602344

Osteogenesis Imperfecta (OI) is a rare genetic disorder caused by mutations in genes that encode collagen, with varying clinical presentations. While some studies in Indonesia have reported OI’s clinical features and treatments, there is a lack of comprehensive national data, with limited awareness and access to specialized care for affected individuals. This collaborative study, involving multiple centres across Indonesia, aims to address data fragmentation by analyzing patient characteristics, clinical manifestat [...]