Chromosome 19p13.3 Deletion in a Patient With Macrocephaly, Obesity, Mental Retardation, and Behavior Problems

摘要

The development of high-resolution array CGH has enabled the identification of genomic aberrations not previously detectable using lower resolution techniques such as karyotyping, and this has led to the definition of a number of novel syndromes [Koolen et al., 2006; Shaw-Smith et al., 2006; Ballif et al., 2007]. We have screened a cohort of 34 obese children with developmental delay and dysmorphism for copy number changes that may underlie their suspected genomic disorders, using a prototype 185K Agilent genome-wide scanning array (array design and array CGH methods are described by de Smith et al. [2007]). In this way, it was hoped that genomic loci involved in obesity might be identified, since investigation of individuals with such extreme phenotypes may shed light on genomic regions associated with complex diseases [Froguel and Blakemore, 2008].