Chromosome Res (2015) 23(Suppl 1):S1–S157 DOI 10.1007/s10577-015-9476-6 10th European Cytogenetics Conference 2015 4–7 July 2015, Strasbourg – France Published online: 1 July 2015 # Springer Science+Business Media Dordrecht 2015 EDITORIAL Mendel’slaws.Twoexceptionalandwell-known speakers, Trude Schwarzacher and Marcus This Supplement of Chromosome Research contains Pembrey, will show us the relevance of Mendel’s abstracts of the invited lectures and submitted oral work to the genetics of today. and poster presentations at the 10th European In the Opening lecture Terry Hassold will give us Cytogenetics Conference held on 4–7July2015in new insights into the age-old problem of aneuploidy in Strasbourg. humans. An important topic at this conference is the It was 150 years ago, in 1865, that Mendel first impact of next generation sequencing (NGS) and whole presented his paper on Experiments on Plant genome sequencing. In recent years the massive Hybridization at the Natural History Society in Brno sequencing has changed the practice of clinical (now in Czech Republic); the paper was published the genetics and has implications for cytogenetics. In following year. Gregor Johann Mendel was a German- the session “Impact of Whole Genome Sequencing speaking Augustinian friar who carried out his now on Future Diagnostics”, Joris Veltman will talk about famous experiments on pea plants in the experimental NGS and cytogenetics and Claudia Haferlach will garden at his monastery. He studied seven characteris- address the impact of NGS on the genetic diagnosis of tics of pea plants: plant height, pod shape and colour, malignant haemopathies. The sessions on Chromosome seed shape and colour, and flower position and colour. Rearrangements include among others a lecture by He coined the terms ‘recessive’ and ‘dominant’ in Sandra Rodriguez Perales on engineering of human reference to certain traits and he demonstrated the tumour-associated chromosomal translocations by actions of invisible ‘factors’— now called genes— CRISPR-Cas9 system. that provided for visible traits in predictable ways. Another highlight of the programme is the session on He kept meticulous records of his observations and based Prenatal Diagnosis in which Charles Strom will talk on these he formulated the laws of segregation and of about the positive predictive value of non-invasive pre- independent assortment, which later came to be known as natal screening (NIPS), and Kamlesh Madan will speak Mendel’slawsofinheritance.However,itwasmorethan about the impact of prenatal technologies on sex ratio. three decades later, at the turn of the 20th century, that the Besides these highlights, there are two interesting profound significance of Mendel’sworkwasrecognized. topics in the session on Clinical Cytogenetics, one is His work was rediscovered and his experimental on the CNVs on the X chromosome by Damien findings were verified by a number of scientists, Sanlanville and the other is an intriguing question thus ushering in the era of modern genetics. At this “Can Down syndrome be treated?” posed by Renaud Conference we celebrate the 150-year anniversary of Touraine. In the session on Animal and Plant S2 10th European Cytogenetics Conference 2015 Cytogenetics, Jaroslav Dolezol will discuss polyploidy As always, it is our intention that this meeting should and interspecific hybridization in plants, and Elena provide the participants with an opportunity for not only Giulotto will talk about the functional organization of contributing their knowledge and experience, but also satellite-less equid centromeres. for interacting with each other. Strasbourg, being one of Finally, there are a number of interesting topics Europe’s most attractive cities is the ideal place for this; in sessions on Tumour Cytogenetics, Fragile sites the entire town centre has been listed as UNESCO and Chromosome Instability, Segmental Duplications World Heritage. We hope that the participants will take and CNVs and Accreditation and Quality control. the opportunity to visit the centre to discover its history, The programme ends with the Keynote Lecture on its cuisine and its unique cultural atmosphere. the 22q11.2 rearrangement disorders by Bernice Finally, on behalf of the ECA and the Scientific Morrow. Programme Committee, I wish all participants a stimu- Iwouldliketodrawyourattentiontothemany lating, useful and an enjoyable meeting. interesting submitted oral communications and posters, the abstracts of which also appear in this José M. García-Sagredo supplement. President 10th European Cytogenetics Conference 2015 S3 COMMITTEES E.C.A. BOARD OF DIRECTORS SCIENTIFIC PROGRAMME COMMITTEE Sevilhan ARTAN Mariano ROCCHI–Chair Juan Cruz CIGUDOSA Claudia HAFERLACH Jean-Michel DUPONT Damien SANLAVILLE José M. GARCIA-SAGREDO Eva KLOPOCKI J.S. (Pat) HESLOP-HARRISON Joris VERMEESCH Thierry LAVABRE-BERTRAND Orsetta ZUFFARDI Nicole de LEEUW Kamlesh MADAN Konstantin MILLER Felix MITELMAN Harald RIEDER Mariano ROCCHI Elisabeth SYK LUNDBERG Roberta VANNI E.C.A. COMMITTEE Jose M. GARCIA-SAGREDO President Elisabeth SYK LUNDBERG First Vice-President Kamlesh MADAN Second Vice-President Konstantin MILLER General Secretary Jean-Michel DUPONT Treasurer Organizing Secretariat Yıldız Posta Cad. Akın Sitesi 1. Blok No:6 Kat:1 D:3 Gayrettepe 34349 Beşiktaş/Istanbul, TURKEY Email : [email protected] Phone : +90-212347-6300 Fax : +90-212347-6363 Visit www.dekon.com.tr for more information. Editors of the abstract book: José M. Garcia-Sagredo, Kamlesh Madan, Konstantin Miller The European Cytogeneticists Association (E.C.A.) is indebted to the following companies and institutes for their support: S4 10th European Cytogenetics Conference 2015 10th European Cytogenetics Conference 2015 S5 10TH EUROPEAN CYTOGENETICS CONFERENCE PROGRAM SATURDAY, 4 JULY 2015 14:00–15:00 Room 12 Permanent Working Group–Clinical and Molecular Approaches to Cytogenetic Syndromes 15:00–16:00 Room 12 Permanent Working Group–Molecular Cytogenetics and Array-CGH 16:00–17:00 Room 12 Permanent Working Group–Marker Chromosomes 14:00–15:00 Room Boston Permanent Working Group–Cytogenetics of Haematological Malignancies 15:00–16:00 Room Boston Permanent Working Group–Prenatal Diagnosis 16:00–17:00 Room Boston Permanent Working Group–Animal, Plant and Comparative Cytogenetics 14:00–15:00 Room Dresden CEQAS Participants’ Meeting 15:00–16:00 Room Dresden Permanent Working Group–Quality Issues and Training in Cytogenetics 16:00–17:00 Room Dresden International Breakpoint Mapping Consortium, Ancillary Meeting 14:00–15:00 Room Leicester Permanent Working Group–Cancer Cytogenetics, Solid Tumor Studies 15:00–16:00 Room Leicester Permanent Working Group–Cytogenetics, Toxicology and Mutagenesis 16:00–17:00 Room Leicester Permanent Working Group–Meiotic Studies 17:00–17:50 Industry-sponsored Satellite Symposium 18:00–19:00 Opening Lecture Chairs: José M. Garcia-Sagredo, Damien Sanlaville Aneuploidy in humans: new insights into an age-old problem Terry Hassold (USA) SUNDAY, 5 JULY 2015 08:30–10:30 Plenary Session: Clinical Cytogenetics Chairs: Elisabeth Syk Lundberg, Kamlesh Madan 08:30–09:05 CNV on the X Chromosome. Clinical interpretation and pitfalls Damien Sanlaville (F) 09:05–09:40 Can Down syndrome be treated? Renaud Touraine (F) 09:40–10:30 Selected Oral Presentations Detecting small Copy Number Variations, smaller than 400 kb, improves the diagnostic yield of CMA in intellectual disability Marie Faoucher (F) The power of social media for karyotype-phenotype analysis of rare chromosome disorders Conny van Ravenswaaij-Arts (NL) Reorganisation of chromosome 9 pericentromeric segmental duplications in inv(9) carriers and in evolution Stefan Müller (D) 10:30–11:00 Coffee Break 11:00–12:00 Plenary Session: 150 Years Since Mendel’s Laws (Brno, Natural History Society 1865, published 1866) Chairs: Pat Heslop-Harrison, Mariano Rocchi 11:00–11:30 Mendel, his time, and the rediscovery of his laws Trude Schwarzacher (GB) 11:30–12:00 From genetic to epigenetic inheritance S6 10th European Cytogenetics Conference 2015 Marcus Pembrey (GB) 12:00–14:40 Poster Session 12:40–13:30 Industry-sponsored Satellite Symposium 13:40–14:30 Industry-sponsored Satellite Symposium 14:40–15:45 Concurrent Session: Chromosomal Rearrangements I Chairs: Orsetta Zuffardi, Damien Sanlaville 14:40–15:05 Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR-Cas9 system Sandra Rodriguez Perales (E) 15:05–15:30 Genome rearrangements in hereditary disorders Karl Heinimann (CH) 15:30–15:45 Selected Oral Presentation Unraveling the internal structure of neocentromeres in ring chromosomes harboring genomic amplification in soft tissue tumors Gemma Macchia (I) 14:40–15:45 Concurrent Session: Segmental Duplications and Copy Number Variants I Chairs: Joris Vermeesch, Serge Romana 14:40–15:05 Salivary amylase CNV and obesity Philippe Froguel (GB) 15:05–15:30 Polymorphism of the pseudoautosomal region I Martin A. Mensah (D) 15:30–15:45 Selected Oral Presentation Unbalanced de novo chromosome translocations and inversions: a two-step origin? Maria Clara Bonaglia (I) 15:45–16:15 Coffee Break 16:15–17:20 Concurrent Session: Fragile Sites and Chromosome Instability Chairs: Lidia Larizza, Jean-Michel Dupont 16:15–16:40 Fragile X Syndrome: an overview Jean-Louis Mandel (F) 16:40–17:05 CINister problems, modeling aneuploidy in the mouse Floris Foijer (NL) 17:05–17:20 Selected Oral Presentation The International Breakpoint Mapping Consortium (IBMC). Systematic mapping of chromosomal breakpoints