Want to take quizzes and track your credits?
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relevant genetic abnormalities in approximately 5% of children with these disorders.1 However, karyotyping has now been replaced by chromosomal microarray analysis (CMA), which detects unbalanced chromosomal rearrangements like G-banded karotyping but also detects smaller chromosome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).
Sign in to take quiz and track your certificates
Corresponding Author: David H. Ledbetter, PhD, 100 N Academy Ave, MC 22-01, Danville, PA 17822-2201 (firstname.lastname@example.org).
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.
You currently have no searches saved.