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Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies


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Chromosomal Microarray Data

Slide 5

September 2011

This is what typical array data looks like once it’s plotted. Each probe is plotted independently and probes that have equal copy number between the patient and control DNA specimens line up on the zero line. Probes that are deleted should move to -1 as shown on the plot on the left which demonstrates a patient with a 13q deletion and probes that are duplicated should move to approximately 0.58 as is shown on the right which demonstrates a patient with a 14q duplication. The precise genomic position of each probe is known so the start and stop points or what we call the coordinates of each deletion and duplication can be described very accurately. Based on these coordinates, we can determine precisely what genes are contained within those intervals and make clinical judgments on the effects of deletions or extra copies of those genes.

Chromosomal Microarray Data


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