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Article

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Neurogenetics - 1 Feb 2010

Poot Martin, Beyer Vera, Schwaab Ira, Damatova Natalja, Van't Slot Ruben, Prothero Jo, Holder Sue E, Haaf Thomas

Abstract excerpt

Patients with autism spectrum disorder (ASD) frequently harbour chromosome rearrangements and segmental aneuploidies, which allow us to identify candidate genes. In a boy with mild facial dysmorphisms, speech delay and ASD, we reconstructed by karyotyping, FISH and SNP array-based segmental aneuploidy profiling a highly complex chromosomal rearrangement involving at least three breaks in chromosome 1 and seven...

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Source

Identifiers

PMID: 19582487
DOI: 10.1007/s10048-009-0205-1

Genes

CNTNAP2
KCTD3
FOXP2

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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