Fig. 1

Pedigrees of families with syndromic autism and copy number variants of high interest. Asterisks indicate parent of CNV origin. Hatched individuals have been diagnosed with an autism spectrum disorder while those in solid shading have been diagnosed with autism. a Deletion on chromosome 6q24 was identified in AU067703 and was inherited maternally from AU067701. AU067703 is diagnosed with autism, seizures, mental retardation and adducted thumbs while AU067705 is diagnosed with autism only. Their mother has been diagnosed with bipolar disorder. b Deletion on chromosome 1q24.2 was identified in AU1334302 and AU1334303 and was transmitted by AU1334201. Additionally AU1334303 carries another duplication on chromosome 22q11.21 that was not paternally inherited. DNA from AU1334202 was unavailable for testing. c A paternally inherited duplication on chromosome 4q34.2 was identified in individuals AU010903 and AU010904. d Two paternally inherited duplications on chromosome 3p26.2 and 3p26.1 were present in individuals AU005303 and AU005304. Additionally AU005304 carried a small, apparently de novo duplication on chromosome 3p25.1