1. Fluorescence in situ hybridisation (FISH) validation of chr3p26
Fluorescence in situ hybridisation (FISH) validation of chr3p26.3 copy number variations (CNVs).
Fluorescence in situ hybridisation (FISH) validation of chr3p26.3 copy number variations (CNVs). (A) Validation of chr3p26.3 microduplication. FISH analysis confirmed the chr3p26.3 microduplication in subject 1 and his father (FISH images from subject 1 pictured). Panel order from left to right: composite image, left flanking clone (yellow), right flanking clone (green), clone within the CNV (red). (B) Validation of chr3p26.3 microdeletion. FISH analysis confirmed the chr3p26.3 microdeletion in 2B, 2C and their father (FISH images from subject 2C pictured). Panel order from left to right: composite image, left flanking clone (yellow), right flanking clone (green), clone within the CNV (red). (C) Normal chromosome 3. (D) Chromosome 3 with duplication. Comparison of red signal intensity in (C) versus (D) demonstrates a duplication. (E) Ideogram of clone locations. Three bacterial artificial chromosomes (BACs) were selected for each CNV: a left clone flanking the CNV pseudocoloured yellow (RP11-204C23), a right clone flanking the CNV pseudocoloured green (RP11-95E11), and clone within the CNV pseudocoloured red (RP11-129K1).
J Roohi et al. J Med Genet 2009;46:
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