Table 1 FISH validation of chr3p26.3 microdeletion
RegionBACSubject 2ASubject 2BSubject 2CMotherFather
OutsideRP11-204C23NormalNormalNormalNormalNormal
InsideRP11-129K1NormalDeletedDeletedNormalDeleted
InsideRP11-587N5NormalDeletedDeletedNormalDeleted
InsideRP11-35L22NormalDeletedDeletedNormalDeleted
InsideRP11-33J20NormalDeletedDeletedNormalDeleted
InsideRP11-129L14NormalDeletedDeletedNormalDeleted
InsideRP11-119L4NormalDeletedDeletedNormalDeleted
InsideRP11-916L15NormalDeletedDeletedNormalDeleted
OutsideRP11-95E11NormalNormalNormalNormalNormal

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

  • FISH was performed on subjects 2A, 2B, 2C and their parents with 2 BACs flanking the CNV (RP11-204C23 and RP11-95E11) and a third BAC within the CNV.