Article
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2016
Biamino Elisa, Di Gregorio Eleonora, Belligni Elga Fabia, Keller Roberto, Riberi Evelise, Gandione Marina, Calcia Alessandro, Mancini Cecilia, Giorgio Elisa, Cavalieri Simona, Pappi Patrizia, Talarico Flavia, Fea Antonio M, De Rubeis Silvia, Cirillo Silengo Margherita, Ferrero Giovanni Battista, Brusco Alfredo
Abstract excerpt
Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD), autism spectrum disorder (ASD), and schizophrenia (SCZ). Often, individuals carrying the same pathogenic CNV display high clinical variability. By array-CGH analysis, we identified a novel familial 3q29 deletion (1.36 Mb), centromeric to the 3q29 deletion...
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