The 2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism was held in the beautiful Sicilian town of Troina (Italy) on 7 and 8 April 2006.

The scientific program was outlined by an International Scientific Committee made up of Dr Bert De Vries (Netherlands), Dr Samantha Knight (Britain), Dr Christa Lese Martin (USA) and Dr Corrado Romano (Italy), who is the Director of the Unit of Pediatrics and Medical Genetics in the Oasi Institute (IRCCS) for Research and Care in Mental Retardation and Brain Aging and organized the meeting.

After welcoming addresses from Dr David Ledbetter, on behalf of the American Society of Human Genetics, Dr Alessandra Renieri, on behalf of the European Society of Human Genetics, and Dr Franca Dagna Bricarelli, President of the Italian Society of Human Genetics, the meeting was introduced by Dr Corrado Romano, on behalf of the Scientific Committee.

The program of the meeting included four monothematic sessions (Mechanisms, Telomeres, Techniques and Phenotypes), one roundtable, two short communication sessions and a poster session.

The Mechanisms Session, chaired by Mariano Rocchi (I), was made up of presentations from Evan Eichler (USA) on the effect of genomic duplications in the origin of cryptic chromosomal rearrangements and Richard Redon (UK) on the meaning of Copy Number Variation in the human population.

The Telomeres Session, chaired by David Ledbetter (USA), featured Frank Kooy (B) presenting an overview on mechanisms and techniques and Albert Schinzel (CH) addressing an overview on recognizable phenotypes.

The Techniques Session, chaired by Samantha Knight (UK), started with Caroline Mackie Ogilvie (UK) talking about prenatal diagnosis of cryptic chromosomal rearrangements, followed by a presentation from Joris Veltman (NL) on high density BAC, SNP and oligonucleotide microarrays. The session ended with Helen Firth (UK) addressing the clinical interpretation of FISH and array data.

The roundtable, chaired by Romano Tenconi (I), focused on the topic ‘Are clinical inclusion criteria still needed for cryptic chromosomal rearrangements? If yes, which ones?’ Bert De Vries (NL), Albert Schinzel (CH), Marcella Zollino (I) and Orsetta Zuffardi (I) were the invited speakers on this topic.

The Phenotypes Session, chaired by Albert Schinzel (CH) and Bert De Vries (NL), included talks by Christa Lese Martin (USA) on autism and cryptic chromosomal rearrangements, David Ledbetter (USA) on marker chromosomes in mental retardation, Bert De Vries (NL) on new microdeletion/duplication syndromes, Britt-Marie Anderlid on phenotypes resulting from microdeletions and microduplications in the same region, and Anita Rauch on genotype–phenotype correlations in 22q11.2 associated syndromes.

The Sessions on Short Communications included 11 scientific communications and the Poster Session consisted of 7 posters.

All the chairpersons, speakers and audience who filled the 200-seat meeting room ‘Sala Lazzati’ of the Hotel ‘La Cittadella dell'Oasi’ agreed upon the great success of the Meeting, which will now be an annual scientific meeting focused on the topic of cryptic chromosomal rearrangements in mental retardation and autism.

The 3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism is scheduled for April 13 and 14, 2007.