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Section information

Cancer genetics

This section publishes research on the variety and impact of chromosomal aberrations on all types of human cancer. Manuscripts on animal models of tumors are also welcome. Case reports can only be considered if they provide a comprehensive review of the literature or describe an as yet-unreported finding in the corresponding malignancy. The exclusive use of molecular cytogenetic approaches (including array-CGH), or a combination of those with banding cytogenetics, standard molecular genetic or modern high-throughput approaches, or with proteomic or epigenetic studies, is welcome.

Clinical genetics

Pre- or postnatally detected, genetically caused inborn syndromes make a huge contribution to the global burden of such diseases. This section welcomes articles exploring the role of microscopically visible and submicroscopic chromosomal aberrations across the whole spectrum of correspondingly caused clinical genetic syndromes. Studies on the formation of derivative chromosomes are more than welcome. Single case reports need to provide a comprehensive review of the literature of comparable cases. Of special interest are studies on small supernumerary marker chromosomes and complex chromosomal rearrangements including karyotype chaos and chromosomal mosaicism.

Nuclear and chromosome architecture

The impact of nuclear architecture is neither well studied nor well understood. Molecular cytogenetics is the best approach for studying the impact of chromosomal aberrations, as it is single cell-directed. This section publishes original research on the 3D structure of chromosomes and interphase nuclei.  Small movies can also be provided here as supplementary files to Molecular Cytogenetics.

Animals and plants

This section publishes high-quality and innovative research generated from molecular cytogenetic studies of animals, plants or, more generally, in eukaryotes. Also, each kind of evolutionary aspect is welcome in this section, including cross-species-FISH studies using, for example, human probes in other species. Also, basic research on karyotype structure in some poorly studied species should be submitted.


Even though the development of genome-wide techniques has rapidly improved, mutagenesis can still be best assessed at the single-cell level using molecular cytogenetics. Corresponding research and review articles are welcome.

Technology and methods:

This section welcomes articles from any discipline of molecular cytogenetics not covered by the other journal sections and deals with the implementation of new probe sets, the description of new types of chromosomal abnormalities ( including non clonal chromosome aberrations), or ideas around the vital field of molecular cytogenetic research.  Descriptions of methods or in vitro systems used to study karyotype evolution or quantify chromosome instability are welcome.

Mosaicism and Chromosome-Genome Instability:

This section publishes research on causes and consequences of chromosomal mosaicism and instability. Articles describing theoretical and empirical studies dedicated to exploring the origins of mosaic chromosome abnormalities and genome instability at the chromosomal level are suggested to form the essential body of the section. Descriptions of phenotypic outcomes of chromosomal mosaicism and instability are also welcome. The aim of this Molecular Cytogenetics section is to highlight the role of chromosomal mosaicism and chromosome/genome instability in health and disease.