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Article

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

American journal of medical genetics. Part A - 1 May 2020

Plesser Duvdevani Morasha, Pettersson Maria, Eisfeldt Jesper, Avraham Ortal, Dagan Judith, Frumkin Ayala, Lupski James R, Lindstrand Anna, Harel Tamar

Abstract excerpt

Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations, and complex chromosomal rearrangements (CCRs). We describe an infant with a clinical diagnosis of Cornelia de Lange syndrome (CdLS) in whom chromosome...

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Identifiers

PMID: 32125084
DOI: 10.1002/ajmg.a.61539
PMCID: PMC7502196

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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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