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Article

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

Cold Spring Harbor molecular case studies - 1 Jun 2018

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

Abstract excerpt

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...

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Share to Chromosome Banding
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to DNA Copy Number Variations

Share to In Situ Hybridization, Fluorescence

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Share to Ultrasonography, Prenatal

Source

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Identifiers

PMID: 29858378
DOI: 10.1101/mcs.a002196
PMCID: PMC5983170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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