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A) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 1. The 1.914 Mb interstitial q37.1 deleted region of chromosome 2 extends between oligomers A_18_P13670199 (231,264,956 bp) and A_16_P00618306 (233,178,325 bp) flanked by oligomers A_16_P00615757 (231,257,468 bp) and A_16_P00618312 (233,181,399 bp) (UCSC Genome Browser, http://genome.ucsc.edu/ ; February 2009). B) FISH with BAC clones RP11-395A23 (AC010149) (chr2:231,304,236–231,476,367). The arrowhead indicates the deleted chromosome 2. D) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 2. The 4.515 Mb interstitial deletion at bands q37.1q37.3 of chromosome 2 was comprised between oligomers A_16_P16076619 (232,963,736 bp) and A_16_P36124457(237,479,062 bp) flanked by oligomers A_16_P16076610 (232,954,321 bp) and A_16_P36124475 (237,483,914 bp). C) FISH with RP11-485M18 (AC079400)(chr2:236,766,818-236,919,215). The arrowhead shows the deleted chromosome 2.

Journal: PLoS ONE

Article Title: Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations

doi: 10.1371/journal.pone.0066048

Figure Lengend Snippet: A) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 1. The 1.914 Mb interstitial q37.1 deleted region of chromosome 2 extends between oligomers A_18_P13670199 (231,264,956 bp) and A_16_P00618306 (233,178,325 bp) flanked by oligomers A_16_P00615757 (231,257,468 bp) and A_16_P00618312 (233,181,399 bp) (UCSC Genome Browser, http://genome.ucsc.edu/ ; February 2009). B) FISH with BAC clones RP11-395A23 (AC010149) (chr2:231,304,236–231,476,367). The arrowhead indicates the deleted chromosome 2. D) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 2. The 4.515 Mb interstitial deletion at bands q37.1q37.3 of chromosome 2 was comprised between oligomers A_16_P16076619 (232,963,736 bp) and A_16_P36124457(237,479,062 bp) flanked by oligomers A_16_P16076610 (232,954,321 bp) and A_16_P36124475 (237,483,914 bp). C) FISH with RP11-485M18 (AC079400)(chr2:236,766,818-236,919,215). The arrowhead shows the deleted chromosome 2.

Article Snippet: Considering the phenotypic abnormalities of the patients, array CGH analysis (Agilent G3 400 K) was performed.

Techniques: Microarray, Clone Assay