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J Med Genet 46:176-182 doi:10.1136/jmg.2008.057505
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Disruption of contactin 4 in three subjects with autism spectrum disorder

Table 2 FISH validation of chr3p26.3 microduplication
Region BAC Subject 1 Mother Father
Outside RP11-204C23 Normal Normal Normal
Inside RP11-129K1 Duplicated Normal Duplicated
Inside RP11-587N5 Duplicated Normal Duplicated
Inside RP11-35L22 Duplicated Normal Duplicated
Inside RP11-33J20 Duplicated Normal Duplicated
Inside RP11-129L14 Duplicated Normal Duplicated
Inside RP11-119L4 Duplicated Normal Duplicated
Inside RP11-916L15 Duplicated Normal Duplicated
Outside RP11-95E11 Normal Normal Normal

  • BAC, bacterial artificial chromosome; CNV, copy number variation; FISH, fluorescence in situ hybridisation.

  • FISH was performed on subject 1 and his parents with 2 BACs flanking the CNV (RP11-204C23 and RP11-95E11) and a third BAC within the CNV.

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