PMC4303604_01
Identification of the Proximal 16p11.2 Microdeletion.. (A) Microarray-based comparative genomic hybridization (aCGH) results of chromosome 16 in the proband. The identified 16p11.2 deletion is highlighted in the chromosome view and enlarged. Red, black, and blue dots represent aCGH probes with log2 ratios less than -0.25, in between -0.25 and 0.25, and greater than 0.25, respectively. (B) Confirmation of the deletion by fluorescence in situ hybridization (FISH) using a BAC probe that hybridized to 16p11.2 (RP11-114A14) and a control probe that hybridized to the subtelomere of chromosome 16q (16qTEL013). (C) Illustration of the chromosome 16 ideogram with enlarged views from ~29.2 to 30.3 Mb within cytoband 16p11.2. The location of the 533.9-kb deletion and FISH probe are noted in relation to the location of known human genes and transcripts from the University of California Santa Cruz (UCSC) Genes track (including gene predictions from RefSeq, Genbank, Consensus Coding Sequence [CCDS], and UniProt), Online Mendelian Inheritance in Man (OMIM) disease genes (with OMIM identification [ID] numbers), segmental duplications [color was used to distinguish level of similarity (gray: 90-98% similarity; yellow: 98-99% similarity; orange: >99%], and structural variants from the Database of Genomic Variants (blue bars representing copy number gain copy number variants [CNVs], red bars representing copy number loss CNVs, and brown bars representing both copy number gain and loss CNVs).
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Technologies). Although no pathogenic PRRT2 mutations were detected by sequencing, aCGH identified a 533.9-kb deletion on chromosome 16 [arr 16p11.2(29564185-30098069)x1; hg18], encompassing over 20 genes and transcripts and including four Mendelian disease genes (KIFF22, PRRT2, ALDOA, and TBX6) (Figure 1). This proximal 16p11.2 deletion was confirmed by fluorescence in situ hybridization (FISH) using a bacterial artificial chromosome (BAC) probe that hybridized to 16p11.2 and a control probe that hybridized to the subtelomere of chromosome 16q (Figure 1).