Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice.

Shi, Guanglu; Xu, Jing; Barnes, Shirelle F; Farooqi, Midhat S; Luu, Hung S; Gotway, Garrett; Park, Jason Y · J Pediatr · 2022

case_series · Level IV

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Abstract

Chromosomal microarray analysis (CMA) frequently yields inconclusive results. We reexamined inconclusive CMA results from 33 previously tested patients and reached a definitive diagnosis in 3 (9.1%) and identified the need for additional testing in 4 (12.1%). Reinterpretation may resolve inconclusive CMA results.

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