Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice

Guanglu Shi; Jing Xu; Shirelle F. Barnes; Midhat S. Farooqi; Hung S. Luu; Garrett Gotway; Jason Y. Park

doi:10.1016/j.jpeds.2021.12.036

Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice

Guanglu Shi, Jing Xu, Shirelle F. Barnes, Midhat S. Farooqi, Hung S. Luu, Garrett Gotway, Jason Y. Park

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	219-223
Number of pages	5
Journal	Journal of Pediatrics
Volume	243
DOIs	https://doi.org/10.1016/j.jpeds.2021.12.036
State	Published - Apr 2022

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2021.12.036

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title = "Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice",

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.",

author = "Guanglu Shi and Jing Xu and Barnes, {Shirelle F.} and Farooqi, {Midhat S.} and Luu, {Hung S.} and Garrett Gotway and Park, {Jason Y.}",

note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",

year = "2022",

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doi = "10.1016/j.jpeds.2021.12.036",

language = "English (US)",

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AU - Shi, Guanglu

AU - Xu, Jing

AU - Barnes, Shirelle F.

AU - Farooqi, Midhat S.

AU - Luu, Hung S.

AU - Gotway, Garrett

AU - Park, Jason Y.

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N2 - 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.

AB - 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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AN - SCOPUS:85123117649

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JO - Journal of Pediatrics

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ER -

Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice

Abstract

ASJC Scopus subject areas

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