Molecular Cytogenetics

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Evaluation of three read-depth based copy number variants (CNV) detection tools using whole-exome sequencing data.

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Content type: Case Report
| 11 July 2018

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

Authors: Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R. Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay and Teresa de Souza Fernandez
Content type: Case Report
| 20 June 2018

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

Authors: Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor and Borut Peterlin
Content type: Obituary
| 13 June 2018

Yuri B. Yurov (1951-2017)

Authors: Ivan Y. Iourov and Svetlana G. Vorsanova
Content type: Case Report
| 13 June 2018

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)

Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang and Hai-Liang Liu
Content type: Case Report
| 7 June 2018

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Authors: Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup and Carolina Sismani

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Content type: Review
| 12 October 2011

The genome diversity and karyotype evolution of mammals

Authors: Alexander S Graphodatsky, Vladimir A Trifonov and Roscoe Stanyon
Content type: Short report
| 3 July 2013

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

Authors: Wei-Wei Zhao
Content type: Research
| 24 June 2014

Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy

Authors: Stefanie Bug, Beate Solfrank, Felizitas Schmitz, Jana Pricelius, Mona Stecher, Andrew Craig, Marc Botcherby and Claudia Nevinny-Stickel-Hinzpeter
Content type: Case report
| 19 January 2012

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Authors: Mileny ES Colovati, Luciana RJ da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Cláudia B de Mello, Maria I Melaragno and Ana B A Perez
Content type: Letter
| 18 April 2015

Comparability of tumor-cytogenetics and -DNA-cytometry

Authors: Alfred Böcking

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Meetings

See here for a list of upcoming genetics meetings.

Relevant books

Chromothripsis: Methods and Protocols
Pellestor F (Editor; 2018)

Fluorescence in situ Hybridization (FISH) – Application Guide
Liehr T (Editor; 2017)

Uniparental Disomy (UPD) in Clinical Genetics
Liehr T (2014)

Human Interphase Chromosomes
Yurov YB, Vorsanova SG, Iourov IY (2013)

Small Supernumerary Marker Chromosomes (sSMC)
Liehr T (2012)

Fluorescence In Situ Hybridization (FISH) - Application Guide
Liehr T (2009)

FISH Technology
Rautenstrauss BW, Liehr T (2002)

Editors-in-Chief

Thomas Liehr, Institute of Human Genetics, Jena, Germany
Henry Heng, Wayne State University School of Medicine, USA

Founding Editor

Yuri Yurov, National Research Center of Mental Health, Moscow, Russia

Managing Editor

Ivan Iourov, National Research Center of Mental Health, Moscow, Russia

In Memoriam

The Editors and Publisher of Molecular Cytogenetics regret to announce the death of Founding Editor Yuri Yurov.

All at the Journal wish to express their deepest sadness at his passing and send their condolences to his family and many close friends. An obituary that summarizes his many scientific accomplishments was published in the journal and can be found here.

Aims and scope

Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. The journal is divided into the following sections:

Cancer genetics
Clinical genetics
Animals and plants
Mutagenesis
Nuclear and chromosome architecture
Technology and methods

For more information on the the section aims and scope visit our sections information page.

Call for papers: Chromosomal imbalances and cancer

Guest Editor: Emanuela V. Volpi, University of Westminster

Chromosomal imbalances have been known as common features of cancer genomes for a long time. However, we have started to comprehend their causative link to tumorigenesis only recently. Chromosomal instability – as a process leading to abnormal chromosome content and heterogeneity – has been widely researched and increasingly referred to as driving force behind malignant transformation and defining factor for cancer evolution.

The aim of this thematic series is to bring together the latest research findings and conceptual developments in the field of chromosomal imbalances and cancer. We particularly welcome original research papers on the complex interplay of chromosomal instability and aneuploidy in cancerous and pre-cancerous lesions, and papers exploring potential translational aspects.

About the European Cytogeneticists Association

The European Cytogeneticists Association (E.C.A.) was founded in 1997 and is registered in France.

The objectives of the Association are:

Representation and promotion of fundamental research and applications of cytogenetics
Organisation, assessment, and quality control of cytogenetic services in Europe
Research, education and training in all fields which are of interest to or concern cytogenetics and cytogeneticists
Facilitation of transfer of information and collaboration between laboratories.
Representation of professionals in cytogenetics
Study of questions and defence of interests concerning cytogeneticists or cytogenetics in general

Visit the E.C.A website to find out more.

Molecular Cytogenetics

Featured article

Articles

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

Yuri B. Yurov (1951-2017)

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

The genome diversity and karyotype evolution of mammals

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Comparability of tumor-cytogenetics and -DNA-cytometry

Meetings

Relevant books

Editors-in-Chief

Founding Editor

Managing Editor

In Memoriam

Aims and scope

Call for papers: Chromosomal imbalances and cancer

About the European Cytogeneticists Association

Official journal of

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Molecular Cytogenetics

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