Molecular Cytogenetics

Thematic Series: Chromosomal imbalances and cancer

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.

Guest Editor: Emanuela V. Volpi, University of Westminster

Publication: ongoing, but closed for additional submissions

Content type: Case Report
| 14 June 2019

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani and Antonio Novelli
Content type: Case Report
| 27 May 2019

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report

Authors: Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Yu-Dian Huang and Xiu-Qiong Huang
Content type: Research
| 27 May 2019

Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

Authors: Şule Altıner and Nüket Yürür Kutlay
Content type: Research
| 24 May 2019

Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas

Authors: Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter
Content type: Short report
| 18 May 2019

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

Authors: Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak and Namik Kaya

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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: 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: 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: Research
| 7 October 2009

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Authors: Lucia M Moraes, Leila CA Cardoso, Vera LS Moura, Miguel AM Moreira, Albert N Menezes, Juan C Llerena Jr and Héctor N Seuánez

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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)

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.

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.

Meetings

See here for a list of upcoming genetics meetings.

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

Thematic Series: Chromosomal imbalances and cancer

Articles

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report

Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

The genome diversity and karyotype evolution of mammals

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

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

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

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Relevant books

Aims and scope

Editors-in-Chief

Founding Editor

Managing Editor

In Memoriam

Meetings

About the European Cytogeneticists Association

Official journal of

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Molecular Cytogenetics

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