Table 2 FISH validation of chr3p26.3 microduplication
RegionBACSubject 1MotherFather
OutsideRP11-204C23NormalNormalNormal
InsideRP11-129K1DuplicatedNormalDuplicated
InsideRP11-587N5DuplicatedNormalDuplicated
InsideRP11-35L22DuplicatedNormalDuplicated
InsideRP11-33J20DuplicatedNormalDuplicated
InsideRP11-129L14DuplicatedNormalDuplicated
InsideRP11-119L4DuplicatedNormalDuplicated
InsideRP11-916L15DuplicatedNormalDuplicated
OutsideRP11-95E11NormalNormalNormal

  • 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.