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Contact: Mary Beth OLeary
Cell Press

Maternal Plasma Sample BF3404 zij 1 Mb Bin Results across the Genome with a Fetal Karyotype with a Deletion in Chromosome 7

Caption: This clinical sample has a karyotype with a small deletion in chromosome 7 (blue circle). Another small deletion is detected in chromosome 8 (red circle). Expanded regions show z7j and z8j 1 Mb and 100 kb bin data. The figure shows a 1 Mb deletion at bin number 150 Mb on Chr 7 (A). At higher resolution (B), this deletion is found to be 300 kb long, in the region from 150.3 Mb to 150.6 Mb of Chr 7. Note: The putative copy-number gain seen in Chr 7 at bin number 156 in the 1 Mb data is not seen in the same region in the 100 kb data. The figure also shows a 2 Mb deletion on Chr 8 (A) covering bins 46 Mb and 47 Mb. At higher resolution (B), this resolves into a 900 kb deletion, covering the region from 46.9 Mb to 47.7 Mb of Chr 8.

Credit: American Journal of Human Genetics, Srinivasan et al. Figure 4.

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