Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice.

Creator(s)

Guanglu Shi
Jing Xu
Shirelle F Barnes
Midhat S. Farooqi, Children's Mercy HospitalFollow
Hung S. Luu
Garrett Gotway
Jason Y. Park

Document Type

Article

Publication Date

4-2022

Identifier

DOI: 10.1016/j.jpeds.2021.12.036

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.

Journal Title

The Journal of pediatrics

Volume

243

First Page

219

Last Page

223

Recommended Citation

Shi G, Xu J, Barnes SF, et al. Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice. J Pediatr. 2022;243:219-223. doi:10.1016/j.jpeds.2021.12.036