We identified a novel 1.39 Mb interstitial deletion of chromosome 12p13.33 in an 8 year-old Caucasian female propositus and her affected father and brother using microarray-based comparative genomic hybridization (aCGH). They share a history of developmental delay and staring episodes. The deleted region contains eight annotated genes (ERC1, FBXL14, WNT5B, ADIPOR2, CACNA2D4, LRTM2, DCP1B, and CACNA1C). Hemizygous deletions of ERC1, FBXL14, or WNT5B genes may be involved in the development of neurological disorders in these individuals. Furthermore, the centromeric breakpoint of the 1.39 Mb deleted region is the same as the centromeric breakpoint of a 2.3 Mb terminal deletion of 12p13.33 reported recently, indicating the presence of an unstable structure near the breakpoint facilitating recurrent genomic rearrangements.

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rearrangements microarraybased comparative genomic hybridization centromeric breakpoint

Ahmed T, Abdelmoity John J, Hall Douglas C, Bittel Shihui, Yu,.1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.. 54 (2),198-203.

Ahmed T, Abdelmoity John J, Hall Douglas C, Bittel Shihui, Yu,"1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay." 54

Ahmed T, Abdelmoity John J, Hall Douglas C, Bittel Shihui, Yu,"1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay."