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Article

Structural variation of chromosomes in autism spectrum disorder.

American journal of human genetics - 1 Feb 2008

Marshall Christian R, Noor Abdul, Vincent John B, Lionel Anath C, Feuk Lars, Skaug Jennifer, Shago Mary, Moessner Rainald, Pinto Dalila, Ren Yan, Thiruvahindrapduram Bhooma, Fiebig Andreas, Schreiber Stefan, Friedman Jan, Ketelaars Cees E J, Vos Yvonne J, Ficicioglu Can, Kirkpatrick Susan, Nicolson Rob, Sloman Leon, Summers Anne, Gibbons Clare A, Teebi Ahmad, Chitayat David, Weksberg Rosanna, Thompson Ann, Vardy Cathy, Crosbie Vicki, Luscombe Sandra, Baatjes Rebecca, Zwaigenbaum Lonnie, Roberts Wendy, Fernandez Bridget, Szatmari Peter, Scherer Stephen W

Abstract excerpt

Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnormalities in 427 unrelated ASD cases via single-nucleotide polymorphism microarrays and karyotyping. With...

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Source

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Identifiers

PMID: 18252227
DOI: 10.1016/j.ajhg.2007.12.009
PMCID: PMC2426913

Genes

DPP10
DPP6
DPYD
NRXN1
PCDH9
PTCHD1

Provenance

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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