Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice - 24/03/22
Doi : 10.1016/j.jpeds.2021.12.036
Guanglu Shi, PhD 1, Jing Xu, MD, PhD 1, Shirelle F. Barnes, MS, CGC 2, 3, Midhat S. Farooqi, MD, PhD 4, Hung S. Luu, MD 1, 2, Garrett Gotway, MD, PhD 5, 6, ∗, Jason Y. Park, MD, PhD 1, 2, 6, ⁎∗ 
1 Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX
2 Department of Pathology, Children’s Medical Center Dallas, Dallas, TX
3 Department of Genetics, Children’s Medical Center Dallas, Dallas, TX
4 Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO
5 Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX
6 Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX
∗Reprint requests: Jason Y. Park, MD, PhD, Department of Pathology, Children’s Medical Center of Dallas, 1935 Medical District Drive, Dallas, TX 75235Department of PathologyChildren’s Medical Center of Dallas1935 Medical District DriveDallasTX75235
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.
Le texte complet de cet article est disponible en PDF.Abbreviations : AOH, CMA, CNV, VUS
Plan
| J.P. serves on the scientific advisory board of HU Group Holdings (formerly Miraca Holdings); Baylor Genetics and SRL Labs are subsidiaries that provide genomic testing services. The other authors declare no conflicts of interest. |
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| Preliminary data were presented as a poster at the 2021 ACMG Annual Clinical Genetics Meeting (13-16 April 2021, Virtual). |
© 2021
Elsevier Inc. Tous droits réservés.
Vol 243
P. 219-223 - avril 2022 Retour au numéro
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