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Quiz Ref IDChildren with neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorder (ASD), or congenital anomalies may have genetic abnormalities that traditionally were detected using G-banded karyotype analysis. Karyotyping identifies clinically relevant genetic abnormalities in approximately 5% of children with these disorders.1 However, karyotyping has now been replaced by chromosomal microarray analysis (CMA), which detects unbalanced chromosomal rearrangements like G-banded karotyping but also detects smaller chromosome abnormalities, increasing the diagnostic yield to approximately 20% of patients.1,2 Because of its greater sensitivity, CMA tests should now be considered by any clinician evaluating a child with otherwise unexplained developmental delay, intellectual disability, ASD, or congenital anomalies (Audio) (Figure).
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Corresponding Author: David H. Ledbetter, PhD, 100 N Academy Ave, MC 22-01, Danville, PA 17822-2201 (email@example.com).
Conflict of Interest Disclosures: Both authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.
Funding/Support: Funded in part by the National Institute for Mental Health (NIMH; RO1MH074090).
Role of the Funder/Sponsor: NIMH had no role in the preparation, review, or approval of the manuscript; and decision to submit it for publication.
Additional Contribution: We thank Brian Bunke, BS, EGL Genetics, Eurofins Clinical Diagnostics, for providing the array and G-band images. No compensation was received.
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