Clinical Cytogenetics September 14 th 20 th, 2014 Goldrain, South Tyrol, Italy
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1 Thanks for their support to: E.C.A. European Cytogeneticists Association Clinical Cytogenetics September 14 th 20 th, 2014 Goldrain, South Tyrol, Italy DIRECTOR: A. Schinzel (Zurich, Switzerland) FACULTY: A. Baumer (Zurich, Switzerland), P. Benn (Farmington CT, U.S.A.), R. Ciccone (Pavia, Italy), B. Conrad (Bern, Switzerland), R. Hastings, (Oxford, U.K.), T. Krones (Zurich, Switzerland), N. de Leeuw (Nijmegen, The Netherlands), K. Miller (Hannover, Germany), E. Syk-Lundberg (Stockholm, Sweden), G. van Buggenhout (Leuven, Belgium), C. van Ravenswaaij (Groningen, The Netherlands), J. Wisser (Zurich, Switzerland), O. Zuffardi (Pavia, Italy) PROGRAM: Sunday, September 14 th Arrival at Goldrain 20:30-21:00 A. Schinzel Introduction and organisational comments Monday, September 15 th Clinical findings in chromosome aberrations Morning Session: 09:00 12:45 09:00 09:30 1 A. Schinzel Dysmorphic findings in chromosome aberrations: Formation and interpretation 09:35-10:20 2 C.v.Ravenswaaij Basic concepts of chromosome aberrations and epidemiology 10:25-11:00 3 A. Schinzel for D. Bartholdi Clinical dysmorphologic examinations with the help of measurements and computer programs 11:05-11:30 Coffee Break 11:30-12:05 4 J. Wisser Prenatal ultrasound findings indicative for chromosome aberrations 12:10-12:45 5 A. Schinzel / Karyotype-phenotype correlations C. van Ravenswaaij 12:50-14:30 Lunch Break 1
2 Afternoon Session: 14:30 18:30 - Chromosome examination Nomenclature and databases 14:30-15:05 6 R. Hastings for Microscopically visible copy number variation J. Barber 15:10-15:45 7 P. Benn Current approaches for the aneuploidy: Screening using serum and ultrasound markers 15:50-16:20 8 N. de Leeuw ISCN 16:25-16:45 Coffee Break 16:50-18:00 9 N. De Leeuw/ R. Hastings Workshops: Practical exercises in cytogenetic nomenclature and report writing 18:05-18:40 10 J. Wisser & Issues connecting with twins at prenatal diagnosis A. Schinzel 18:20-18:55 11 R. Hastings / N. De Leeuw Workshops II: Practical exercises in cytogenetic nomenclature and report writing 20:30-21:30 Students/Faculty Short presentations with discussions 21:30-00:00 Get together Steinkeller Tuesday, September 16 th Molecular cytogenetics Morning Session:09:00 12:55 09:00 09:40 12 O. Zuffardi Somatic mosaicism and disease 09:45-10:20 13 R.Ciccone Array-CGH: principals, technical aspects 10:25-11:00 14 R.Ciccone Array-CGH: evaluation of the results; use of databases 11:00-11:20 Coffee Break Group picture 11:20-12:00 15 O. Zuffardi Loss- and gain-of-function mutations/cmvs in PKA: a cluster of related disorders 12:05-12:50 16 P. Benn Non-invasive prenatal aneuploidy testing using cfdna: current status and future prospects.i 13:00-14:30 Lunch Break Afternoon Session: 15:00 18:30 Excursion 18:45-19:55 Dinner 20:00-21:00 Students/Faculty Case presentations 2
3 Wednesday, September 17 th - Pre- and postnatal molecular cytogenetics Morning Session: 09:00 12:45 09:00 09:35 17 P. Benn Non-invasive prenatal aneuploidy testing using cfdna: current status and future prospects.ii 09:40-10:20 18 T. Krones Ethical issues in pre- and postnatal genetic diagnosis, with examples 10:25-11:00 19 N. de Leeuw The ECARUCA database. Introduction 11:05-11:25 Coffee Break 11:25-12:10 20 N. de Leeuw & C. v.ravenswaaij 12:15-13:00 21 T. Krones/ Students/Faculty 15:50-16:15 Coffee Break Workshops: The ECARUCA database. Practical exercises. First group, alternating with 21 Array-CGH: principals, technical aspects Case presentation and workshop in small groups: Diagnostic decisions and dilemmas Second group, alternating with 20 13:05-14:30 Lunch Break Afternoon Session: 14:30 18:15 14:30-15:05 22 N. de Leeuw FISH techniques and their application 15:10-15:45 23 R. Hastings Prenatal cytogenetic diagnosis I 16:15-17:00 24 R. Hastings Prenatal cytogenetic diagnosis II 17:05-17:40 25 A. Baumer MLPA and QF-PCR 17: N. de Leeuw SNP array analysis and array platforms used in constitutional genome diagnostics 18:30-20:00 Dinner Thursday, September 18 th - From microscope to array; clinical cytogenetics Morning Session: 9:00 12:45 09:00-09:30 27 C. van Ravenswaaij Reporting array results: what the clinical needs to know 09:35-10:10 28 A. Baumer Optimal use of available techniques in clinical cytogenetics / strategies after detection of CNVs 10:15-11:00 29 N. de Leeuw Next generation sequencing strategies in diagnostics to detect nucleotide and structural variants in the human genome 11:05-11:20 Coffee Break 11:25-12:00 30 B. Conrad Clinical NIPT. Experience with over consecutive cases 12:05-12:45 31 G. van Buggenhout The adult and elderly patient with a chromosome aberration 12:50-14:30 Lunch 3
4 Afternoon Session: 14:00 19:00 Applied clinical cytogenetics 14:30-14:55 32 A. Schinzel Common and uncommon malformations in patients with chromosome aberrations 15:00-15:35 33 G. van Buggenhout Follow-up studies in patients with chromosome aberrations 15:40-16:15 34 K. Miller Chromosome aberrations in spontaneous abortions and stillborns 16:20-16:35 Coffeee break 16:35-17:10 35 C. van Ravenswaaij Risk assessment in structural chromosome aberrations 17:15-17:50 36 R. Hastings EQA and accreditation of cytogenetic laboratories 17:55-18:30 37 C. van Ravenswaaij Conventional versus molecular karyotyping 18:45-20:00 Dinner 20:30-21:30 Faculty & Students Case presentations / workshops 20:30-00:00 Get together Steinkeller Friday, September 19 th Miscellaneous Morning Session:09:00 12:55 09:00 09:45 38 E. Syk-Lundberg Pre-implantation cytogenetic diagnosis 09:50-10:25 39 G. van Buggenhout Microdeletion syndromes 10:30-11:00 40 E. Syk-Lundberg Extra small supernumerary chromosomes 11:05-11:25 Coffee Break Second group picture 11:30-12:05 41 A. Baumer Uniparental disomy and imprinting 12:10-12:40 42 B. Conrad NIPT: Technical and biological limitations and pitfalls in clinical practice 13:00-14:30 Lunch Break Afternoon Session: 14:30 18:15 14:30-15:05 43 K. Miller Ring chromosomes 15:10-15:45 Students and Questions Faculty 15:50-16:15 Coffee Break 16:15-17:00 Students and Discussion of the program Faculty 17:00-18:10 Students EXAMINATION / Questionnaire 18:15-19:00 Students & Faculty Guided visit of the castle 20:30-00:00 Get together Steinkeller Lectures not orally presented Only print 45 A. Schinzel Guidelines for cytogenetic case reports Only print 46 A. Schinzel A. Baumer Mechanisms of formation and origin of chromosome aberrations Only print 47 A. Schinzel When to perform fibroblast chromosome examinations? Only print 48 K. Madan Balanced complex chromosome rearrangements 4
5 Saturday, September 20 th Goodby Goldrain 08:00-09:00 Breakfast 09:00- Checkout and departure 5
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