Article
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Human mutation - 1 Jul 2007
Ullmann Reinhard, Turner Gillian, Kirchhoff Maria, Chen Wei, Tonge Bruce, Rosenberg Carla, Field Michael, Vianna-Morgante Angela M, Christie Louise, Krepischi-Santos Ana C, Banna Lynn, Brereton Avril V, Hill Alyssa, Bisgaard Anne-Marie, Müller Ines, Hultschig Claus, Erdogan Fikret, Wieczorek Georg, Ropers H Hilger
Abstract excerpt
Autism and mental retardation (MR) are often associated, suggesting that these conditions are etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified submicroscopic deletions and duplications as a common cause of MR, prompting us to search for such genomic imbalances in autism. Here we describe a 1.5-Mb duplication on chromosome 16p13.1 that was found by...
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