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Article

Reinterpretation of Chromosomal Microarrays with Detailed Medical History.

The Journal of pediatrics - 1 Jul 2020

Farooqi Midhat S, Figueroa Shirelle, Gotway Garrett, Wang Jason, Luu Hung S, Park Jason Y

Abstract excerpt

OBJECTIVE: To investigate the utility of a detailed medical history in the interpretation of chromosomal microarray results for pediatric patients with a constitutional disease. STUDY DESIGN: A retrospective review and reinterpretation of test results from chromosomal microarrays performed from 2011 to 2013. Previously reported genetic variants were reanalyzed after review of the patient's complete electronic...

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PMID: 32417076
DOI: 10.1016/j.jpeds.2020.03.020

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