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Several types of copy number variants, or a surplus or absence of genetic information encoded by DNA, appear in the 11.2-13.1 region of chromosome 15. Chromosome 15q11.2-13.1 duplication syndrome (dup15q) is caused by duplications of chromosome 15q11.2-13.1. Angelman syndrome derives from a deletion of the mother’s genetic contribution from the 11.2-13.1 region of chromosome 15. To date, no studies have documented early childhood development for individuals with dup15q and Angelman syndrome. Here we present two unique case studies of brothers Simon and Garfunkel, who have dup15q (Simon) and dup15q and Angelman syndrome (Garfunkel). Garfunkel, therefore, has both a duplication and a deletion of parts of his genome in the specifi ed chromosomal region.

Developmental Trajectories for a Sibling Pair with Chromosome 15q11.2-13.1 Duplication Syndrome and Angelman Syndrome