OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, etc.). There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Publication Speed (median values for papers published in 2023): Submission to First Decision: 5.1 weeks; Submission to Acceptance: 17.0 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)

Current Issue: 2024  Archive: 2023 2022 2021 2020 2019 2018 2017

Special Issue

Applications of Fluorescence in Situ Hybridization

Submission Deadline: July 31, 2018 (Closed) Submit Now

Guest Editor

Thomas Liehr, PhD, Dr.h.c., ass. Prof. (YSU and BMS)

University Clinic Jena, Institute of Human Genetics, Am Klinikum 1, 07747 Jena, Germany

Website | E-Mail

Research Interests: clinical genetics; (molecular) cytogenetics; interphase architecture; ZOO-FISH; marker and derivative chromosomes

About This Topic

Fluorescence in situ hybridization (FISH) is an approach applied and applicable in many fields of biological research and diagnostics. Its unique feature is to provide information on localization and copy numbers of specific stretches of nucleic acids on the single cell level. Thus, FISH cannot be replaced by, like in medical field at present very popular ‘high throughput approaches’, which are mostly providing information on the genetic content of thousands to millions of cells at a time. FISH provides multiple possibilities and variants, according to the question to be answered. Fluorescence in situ hybridization can be applied as (i) single to multi-color FISH approaches, (ii) using DNA, RNA, cDNA, PNA, and other types of labeled nucleotides as probes; also (iii) samples for FISH can be various human, animal or plant derived tissue types, and even single cellular organisms.

In this special issue of OBM Genetics, we have selected topics that highlight the progress, the state-of–the-art and future potential of fluorescence in situ hybridization, ranging from practical and technological aspects to applications in research and diagnostics of fluorescence in situ hybridization in human, animal, plant, fungi, biofilms and bacteria. Overall this issue provides information where and how fluorescence in situ hybridization can be applied in practice, and shows its high potential in diagnostics and research.

Planned Papers

Title: A case study of in vitro and in vivo karyotype evolution in melanoma using M-FISH
Authors: Banerjee R, Alifrangis C, Fu B, Corrie P, McDermott U and Yang F
Affiliations: Wellcome Trust Sanger Institute, Cambridge, United Kingdom; E-Mail: rb4@sanger.ac.uk

Title: Usefulness of UroVysion test in diagnosis and monitoring of bladder cancer
Author: Edyta Borkowska
Affiliation: Medical University of Lodz, Chair of Laboratory and Clinical Genetics, Department of Clinical Genetics, Lodz, Poland

Title: A novel acquired t(2;4)(q36.1;q24) with a concurrent submicroscopic del(4)(q23q24) in an adult with polycythemia vera
Author: Eigil Kjeldsen
Affiliation: Professor and senior consultant, HemoDiagnistic Laboratory, Head of Cancer Cytogenetics Section, Aarhus University Hospital, Tage-Hansen Gade 2, Ent. 4A, DK-8000 Aarhus C, Denmark

Title: The application of FISH in melanoma diagnosis
Author: Margit Balazs
Affiliation: Department of Preventive Medicine, Faculty of Public Health, University of Debrecen, Hungary, 4028, Debrecen, Kassai str. 26/b., Hungary

Manuscript Submission Information

Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.

Welcome your submission!


Open Access Technical Note

Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosis

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177


Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for [...]
Open Access Case Report

Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature

Received: 25 July 2018;  Published: 22 July 2019;  doi: 10.21926/obm.genet.1903085


Small supernumerary marker chromosomes (sSMCs), a major problem in clinical cytogenetics, are too small to be characterized for their chromosomal origin by cytogenetic banding techniques. Most sSMCs have not yet been correlated with a specific clinical syndrome, and genotype-phenotype correlation in sSMC-patients is still in major parts under [...]
Open Access Original Research

Individual Radiosensitivity in Lung Cancer Patients Assessed by G0 and Three Color Fluorescence in Situ Hybridization

Received: 27 July 2018;  Published: 26 June 2019;  doi: 10.21926/obm.genet.1902082


Background: It is known that radiosensitivity is very individual. This can influence the tumor response and side effects in normal tissue after radiotherapy of cancer. Therefore we analyzed the sensitivity of a lung cancer cohort to see if they display a similar radiosensitivity distribution if compared to a healthy individuals and a rectal [...]
Open Access Case Report

A De Novo Childhood Case of T-cell Lymphoblastic Leukemia with High Hyperdiploid Karyotype Carrying an Unreported Balanced Translocation t(X;5)(q26;q31.3~32) in A Male Patient

Received: 14 August 2018;  Published: 20 June 2019;  doi: 10.21926/obm.genet.1902081


(1) Background: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes with multiple genetic abnormalities, accounting for 15% and 25% of newly diagnosed cases of ALL in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males. Cytogenetically detectable structural or numerical [...]
Open Access Review

FISHing for Unstable Cellular Genomes in the Human Brain

Received: 06 February 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902076


The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at chromosomal level, which are involved in neuronal diversity in health and disease. Brain-specific chromosomal mosiacism (aneuploidy) and chromosome instability play a role in normal and pathological neurodevelopment, neurodegeneration and aging [...]
Open Access Case Report

Fluorescence in Situ Hybridisation (FISH) is the First Tool to Identify Hypodiploidy in Paediatric Acute Lymphoblastic Leukaemia

Received: 24 December 2018;  Published: 17 April 2019;  doi: 10.21926/obm.genet.1902073


Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case [...]
Open Access Review

FISH-Based Analysis of Mosaic Aneuploidy and Chromosome Instability for Investigating Molecular and Cellular Mechanisms of Disease

Received: 08 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901068


Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome instability is commonly observed during karyotyping of children with neuropsychiatric diseases [...]
Open Access Technical Note

Interphase Quantitative Fluorescence in Situ Hybridization (IQ-FISH)

Received: 02 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901067


Fluorescence in situ hybridization (FISH) seems to be the most applicable and versatile molecular cytogenetic platform for interphase chromosome analysis offering a variety of opportunities for studying chromosomal structure and behaviour at the highest microscopic resolution and at all stages of the cell cycle. Quantitative assessment of [...]
Open Access Research Article

New Tools in Cognitive Neurobiology: Biotin-Digoxigenin Detection of Overlapping Active Neuronal Populations by Two-Color c-fos Compartment Analysis of Temporal Activity by Fluorescent in situ Hybridization (catFISH) and c-Fos Immunohistochemistry

Received: 12 October 2018;  Published: 04 March 2019;  doi: 10.21926/obm.genet.1901065


The method of cellular compartment analysis of temporal activity by fluorescent in situ hybridization (catFISH) is widely used in cellular and behavioral neurobiology. It exploits stimulus-induced expression of immediate early genes (IEGs) and allows identification of two neuronal populations activated in the brain of the same animal in respon [...]
Open Access Research Article

COMBO-FISH: A Versatile Tool Beyond Standard FISH to Study Chromatin Organization by Fluorescence Light Microscopy

Received: 14 September 2018;  Published: 19 February 2019;  doi: 10.21926/obm.genet.1901064


Background: Fluorescence In Situ Hybridization (FISH) has become routine for bio-medical research and medical diagnosis, thereby offering a variety of probes and ready-to-use kits that fulfil requirements for many applications. However, conventional FISH relies on chemo- and/or thermal denaturation to improve target accessibility and use huge [...]
Open Access Opinion

Interphase FISH: A Helpful Assay in Prenatal Cytogenetics Diagnosis

Received: 01 October 2018;  Published: 28 January 2019;  doi: 10.21926/obm.genet.1901063


Since its introduction around the end of the 1970s, interphase in situ hybridization supports classical and latest techniques for determining foetal karyotype in the prenatal diagnosis, providing relevant information for the management of pregnancy quickly. Interphase FISH plays an important role in the study of pregnancies with malformations [...]
Open Access Technical Note

Repli-FISH (Fluorescence in Situ Hybridization): Application of 3D-(Immuno)-FISH for the Study of DNA Replication Timing of Genetic Repeat Elements

Received: 22 July 2018;  Published: 25 January 2019;  doi: 10.21926/obm.genet.1901062


Background: Genetic repeat elements (interspersed or tandem repeats) have diverse functions within cells and at different phases of the cell cycle. Yet, their investigation at a genome-wide scale has been difficult ever since due to their repetitive nature. Here, we describe a method to study the DNA replication kinetics of different repeat [...]
Open Access Research Article

Assessment of Cytogenetic Abnormalities by FISH in Lymphocytes from a Victim Accidentally Exposed to Cobalt-60

Received: 14 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.genet.1804051


Background: A radiation accident occurred on 14 June 2011 in an industrial facility in Bulgaria whit Co source (137 TBq) used to sterilise equipment. Five people received doses exceed 1Gy and led to development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the averaged acute whole-body doses [...]
Open Access Case Report

Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

Received: 13 July 2018;  Published: 21 November 2018;  doi: 10.21926/obm.genet.1804050


Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed in some families. Our aim is to provide an overview of the underlying causes of recurrence [...]
Open Access Original Research

In Silico Detection and FISH Analysis to Determine Location of miRNAs in Solea senegalensis Chromosomes Using BACs

Received: 31 July 2018;  Published: 24 October 2018;  doi: 10.21926/obm.genet.1804044


MicroRNAs (miRNAs) are small non-coding RNAs that play a very important role in gene expression through regulation of mRNA cleavage and translation. The Senegalese sole, Solea senegalensis (Kaup 1858), is a flatfish species that shows great potential for marine aquaculture. Nevertheless, the existence of sexual dysfunction of males reared [...]
Open Access Research Article

Micronucleus-Centromere Assay to Measure Ionizing Radiation Damage of Low Dose Occupational Exposure

Received: 14 August 2018;  Published: 22 October 2018;  doi: 10.21926/obm.genet.1804043


Background: The purpose of the present study was to assess the cytogenetic effect of chronic low dose radiation exposure of nuclear power plant workers using the micronucleus centromere assay. This method allows the differentiation between centromere-positive micronuclei containing whole chromosome and centromere-negative micronuclei containin [...]
Open Access Book Review

Applications of Fluorescence in Situ Hybridization in Radiation Cytogenetic Biodosimetry and Population Monitoring

Received: 26 August 2018;  Published: 19 October 2018;  doi: 10.21926/obm.genet.1804042


The technique of in situ hybridization (ISH) using radioactively labeled DNA probes was first described in the late 1960s and early 1970s. The first use of fluorescence in situ hybridization (FISH) was reported in 1980s where RNA labeled with a fluorophore at the 3’ end was used to detect specific DNA sequences. Since then, the technique [...]
Open Access Technical Note

Quality Assurance/Quality Control of Fluorescence in Situ Hybridization Tests in Hematologic Malignancies

Received: 22 July 2018;  Published: 03 October 2018;  doi: 10.21926/obm.genet.1804038


Because of its’ simplicity, reliability and cost-effectiveness, fluorescence in situ hybridization (FISH) is a major technology that is widely applied in clinical diagnosis, especially for hematologic malignancies, even in the era of next-generation sequencing (NGS) [1-4]. In the Clinical Cytogenetics Laboratory at MD Anderson Cancer Center [...]
Open Access Original Research

Molecular Cytogenetic Characterization of Two Murine Colorectal Cancer Cell Lines

Received: 30 July 2018;  Published: 19 September 2018;  doi: 10.21926/obm.genet.1803037


(1) Background: Colorectal cancer (CRC) is the third most common cancer in human and the fourth leading cause of adult man’s death. Murine tumor cell lines have been established as a model system for CRC, but their cytogenetic properties have so far been only poorly understood. (2) Methods: The two murine colon tumor cell lines CMT-93 and [...]
Open Access Case Report

Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization

Received: 30 May 2018;  Published: 16 September 2018;  doi: 10.21926/obm.genet.1803035


Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and time-consuming. Recently, the application of [...]
Open Access Case Report

sSMC Characterization in a Male with Turner Syndrome Stigmata

Received: 23 March 2018;  Published: 07 September 2018;  doi: 10.21926/obm.genet.1803033


Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMCT in a karyotype 46,X,mar are even more scarce. According to the literature sSMCT are derived from one of the Y-chromosome in ~70% of the cases. Thus, to identify potentially present Y-chromosomal [...]
Open Access Technical Note

User-Friendly Approach to Gain Isolation of Interphase Cells for Fluorescence in Situ Hybridization

Received: 16 March 2018;  Published: 17 May 2018;  doi: 10.21926/obm.genet.1802021


(1) Background: Fluorescence in situ hybridization (FISH) may be performed on metaphase- and/or interphase cells. Metaphase cells can exclusively be obtained and studied after time consuming cell culture. Therefore suited cells derive from peripheral blood, bone marrow or fibroblasts, the latter including skin, tumour or “prenatal tissues [...]