Strasbourg, 4-7 July Scientific Programme

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1 The 10 th European Cytogenetics Conference Strasbourg, 4-7 July 2015 Scientific Programme SATURDAY, 4 JULY :00-17:00 Permanent Working Group Meetings 17:00-17:50 Satellite Symposium 18:00-19:00 Opening Lecture Chairs: José M. Garcia-Sagredo, Damien Sanlaville Chromosome abnormalities in pregnancy Terry Hassold (US) SUNDAY, 5 JULY :30-10:30 Plenary session: Clinical Cytogenetics I Chairs: Elisabeth Syk-Lundberg, Kamlesh Madan 08:30-09:05 CNV on the X Chromosome. Clinical interpretation and pitfalls Damien Sanlaville (FR) 09:05-09:40 Can Down syndrome be treated? Touraine Renaud (FR) 09:40-10:30 Selected Oral Presentations 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 (UK) 11:30-12:00 Inheritance of epigenetics Marcus Pembrey (UK)

2 12:00-14:40 Poster Session 12:00-14:40 Satellite Symposia 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 RNAguided CRISPR-Cas9 system Sandra Rodriguez Perales (ES) 15:05-15:30 Genome rearrangements in hereditary disorders Karl Heinimann (CH) 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 (UK) 15:05-15:30 Polymorphism of the pseudoautosomal region I Martin A. Mensah (DE) 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 sites 16:40-17:05 Aneuploidy in aging and cancer Floris Foijer (NL) 17:05-17:20 Selected Oral Presentation 16:15-17:20 Concurrent Session: Segmental Duplications and Copy Number Variants II Chairs: Nicole de Leeuw, Philippos Patsalis 16:15-16:40 The growing importance of CNVs: new insights for detection and clinical interpretation Sebastien Jacquemont (CA) 16:40-17:05 CNV and psychiatric disorders Aiden Corvin (IE)

3 17:05-17:20 Selected Oral Presentation 17:20-18:30 Poster Session MONDAY, 6 JULY :30-10:30 Plenary session: Tumor cytogenetics I Chairs: Felix Mitelman, Claudia Haferlach 08:30-09:00 The case of EVI1 and GATA2 genes in AML Ruud Delwel (NL) 09:00-09:30 Myelodysplastic syndromes: from 5q- to somatic mutation of RNA splicing machinery Mario Cazzola (IT) 09:30-10:30 Selected Oral Presentations 10:30-11:00 Coffee Break 11:00-12:15 Concurrent Session: Chromosomal Rearrangements II Chairs: Nicole de Leeuw, Franck Pellestor 11:00-11:30 Retrotransposable elements and unbalanced translocations Joris Vermeesch (BE) 11:30-12:00 SD, CNV and complex regions of the human genome Francesca Antonacci (IT) 12:00-12:15 Selected Oral Presentation 11:00-12:15 Concurrent Session: Animal and Plant Cytogenetcs Chairs: Pat Heslop Harrison, Valerie Fillon 11:00-11:30 Polyploidy and genome evolution in plants Jaroslav Dolezel (CZ) 11:30-12:00 Centromeres in the genus Equus Elena Giulotto (IT) 12:00-12:15 Selected Oral Presentation 12:15-14:30 Poster Session 12:15-14:30 Satellite Symposia

4 14:30-15:45 Plenary session: Impact of Whole Genome Sequencing on Future Diagnostics Chairs: Eva Klopocki, Juan Cigudosa 14:30-15:00 NGS and cytogenetics Joris Veltman (NL) 15:00-15:30 Genetic diagnosis in malignant hemopathies Claudia Haferlach (DE) 15:45-16:15 Coffee Break 16:15-17:30 Concurrent Session: Tumor Cytogenetics II Chairs: Roberta Vanni, Thierry Lavabre-Bertrand 16:15-16:45 Constitutional and somatic rearrangement of chromosome 21 in ALL Christine J. Harrison (UK) 16:45-17:15 Developmental disease and cancer Alfonso Bellacosa (US) 16:15-17:30 Concurrent Session: Accreditation and Quality Control Chairs: Harald Rieder, Martine Doco-Fency 16:15-16:40 European Standards for Clinical Laboratory Geneticists Thomas Liehr (DE) 16:40-17:00 Changes in ISO 15189: practical implications Konstantin Miller (DE) 17:00-17:30 Mandatory ISO accreditation for French medical laboratories: how to best reconcile regulatory and normative requirements for cytogenetics? Philippe Lochu (FR) 17:30-18:30 Poster Session

5 TUESDAY, 7 JULY :00-10:30 Plenary session: Prenatal Diagnosis Chairs: Konstantin Miller, Sevilhan Artan 09:00-09:25 Discordant non-invasive prenatal testing Charles Strom (US) 09:25-09:50 Ethical aspects of non invasive prenatal testing for aneuploidies Antina de Jong (NL) 09:50-10:15 Prenatal technologies and sex ratio Kamlesh Madan (NL) 10:15-10:30 Selected Oral Presentation 10:30-10:50 Coffee Break 10:50-11:40 Satellite Symposia 11:50-12:20 Keynote Lecture Chairs: Mariano Rocchi, José M. Garcia-Sagredo The 22q11 deletion syndromes Bernice E. Morrow (US) 12:20 Closing Ceremony Chairs: José M. Garcia-Sagredo, Damien Sanlaville

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