17p13.3 quadruplication: A prenatal and postpartum clinical characterization of a copy number variant

Nicholas Farris, Helena Wu, Sara Said-Delgado, Barrie Suskin, Susan D. Klugman

Research output: Contribution to journalArticle


Prenatal genetic testing has advanced rapidly in the past decade. However, not all results, including variants, are well understood. We report the finding of a 2.5-Mb gene region quadruplication of Chromosome 17p13.3. This region is well characterized for the deletion leading to Miller-Dieker syndrome but has an unclear replication phenotype. Invasive testing performed after ultrasound abnormalities were seen revealed the quadruplication sequence as well as a short segment (850 kb) with x5 copy number variation. This region has previously been reported in a collection of duplications with shared phenotype; our quadruplication suggests similarities in phenotype. This raises the hypothesis of a potential spectrum or copy number variant-based phenotype.

Original languageEnglish (US)
Article numbera002196
JournalCold Spring Harbor Molecular Case Studies
Issue number3
Publication statusPublished - Jun 1 2018


ASJC Scopus subject areas

  • Medicine(all)

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