Article
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Journal of medical genetics - 1 Oct 2012
Zufferey Flore, Sherr Elliott H, Beckmann Noam D, Hanson Ellen, Maillard Anne M, Hippolyte Loyse, Macé Aurélien, Ferrari Carina, Kutalik Zoltán, Andrieux Joris, Aylward Elizabeth, Barker Mandy, Bernier Raphael, Bouquillon Sonia, Conus Philippe, Delobel Bruno, Faucett W Andrew, Goin-Kochel Robin P, Grant Ellen, Harewood Louise, Hunter Jill V, Lebon Sébastien, Ledbetter David H, Martin Christa Lese, Männik Katrin, Martinet Danielle, Mukherjee Pratik, Ramocki Melissa B, Spence Sarah J, Steinman Kyle J, Tjernagel Jennifer, Spiro John E, Reymond Alexandre, Beckmann Jacques S, Chung Wendy K, Jacquemont Sébastien
Abstract excerpt
BACKGROUND: The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. OBJECTIVE: To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. METHODS: We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68...
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