<i>APC</i>-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature by Flavia Privitera, Flavia Piccini, Maria Paola Recalcati, Silvia Presi, Silvia Mazzola, Paola Carrera

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Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome by Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, Silvia Russo, Eleonora Orlandini, Lidia Larizza, Maria Paola Recalcati

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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review by Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D’Amico, Sabrina Signorini, Umberto Balottin, Stefano Bastianello

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Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region by Serena Redaelli, Donatella Conconi, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Ilaria Catusi, Chiara Valtorta, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Angela Bentivegna

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Human Chromosome 18 and Acrocentrics: A Dangerous Liaison by Nicoletta Villa, Serena Redaelli, Elena Sala, Donatella Conconi, Lorenza Romitti, Emanuela Manfredini, Francesca Crosti, Gaia Roversi, Marialuisa Lavitrano, Ornella Rodeschini, Maria Paola Recalcati, Rocco Piazza, Leda Dalprà, Paola Riva, Angela Bentivegna

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Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases by Serena Redaelli, Donatella Conconi, Nicoletta Villa, Elena Sala, Francesca Crosti, Cecilia Corti, Ilaria Catusi, Maria Garzo, Lorenza Romitti, Emanuela Martinoli, Antonella Patrizi, Roberta Malgara, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Gaia Roversi, Angela Bentivegna

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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature by Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati

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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features by Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Luca Persani, Palma Finelli, Palma Finelli, Silvia Russo, Laura Fugazzola, Laura Fugazzola

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Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? by Serena Redaelli, Francesca Romana Grati, Viviana Tritto, Giuliana Giannuzzi, Maria Paola Recalcati, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Francesca Malvestiti, Valentina Zanatta, Elena Repetti, Ornella Rodeschini, Chiara Valtorta, Ilaria Catusi, Lorenza Romitti, Emanuela Martinoli, Donatella Conconi, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Angela Bentivegna

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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature by Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza

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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity by Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate by Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino

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