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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge

Fig. 1

a G-banding analysis of patient 1 revealed a pericentric inversion of chromosome 9; the missing band 9q31 (arrow) was initially considered to be inverted to 9p13 region (arrow head); b CMA identified a pathogenic interstitial deletion of 14 Mb at 9q22.3-q32 (chr9:104,382,544–118,273,644; hg19); c G-banding analysis of patient 2 revealed an extra band at 9qh; d CMA identified a pathogenic gain of 6.3 Mb from 9q21.33–q22.31 (chr9:90,118,500–96,395,801); e G-banding analysis of patient 3 revealed an extra band at the 9q22.1 region; f CMA identified a 10.4 Mb pathogenic gain from 9q21.31–q22.2 (chr9:82,745,056–93,173,691); g G-banding analysis of patient 4 revealed an extra band at 9q12 region with a morphology similar to that of patient 2; h CMA did not reveal copy number changes, which ruled out the presence of pathogenic variants

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Molecular Cytogenetics

ISSN: 1755-8166