Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

doi:10.1016/j.ajhg.2016.08.022

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Article

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

American journal of human genetics - 3 Nov 2016

Ordulu Zehra, Kammin Tammy, Brand Harrison, Pillalamarri Vamsee, Redin Claire E, Collins Ryan L, Blumenthal Ian, Hanscom Carrie, Pereira Shahrin, Bradley India, Crandall Barbara F, Gerrol Pamela, Hayden Mark A, Hussain Naveed, Kanengisser-Pines Bibi, Kantarci Sibel, Levy Brynn, Macera Michael J, Quintero-Rivera Fabiola, Spiegel Erica, Stevens Blair, Ulm Janet E, Warburton Dorothy, Wilkins-Haug Louise E, Yachelevich Naomi, Gusella James F, Talkowski Michael E, Morton Cynthia C

Abstract excerpt

In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of...

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PMID: 27745839
DOI: 10.1016/j.ajhg.2016.08.022
PMCID: PMC5097935

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