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Article

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

American journal of medical genetics. Part A - 1 Mar 2008

Nakamine Alisa, Ouchanov Leonid, Jiménez Patricia, Manghi Elina R, Esquivel Marcela, Monge Silvia, Fallas Marietha, Burton Barbara K, Szomju Barbara, Elsea Sarah H, Marshall Christian R, Scherer Stephen W, McInnes L Alison

Abstract excerpt

Duplications of 17(p11.2p11.2) have been associated with various behavioral manifestations including attention deficits, obsessive-compulsive symptoms, autistic traits, and language delay. We are conducting a genetic study of autism and are screening all cases for submicroscopic chromosomal abnormalities, in addition to standard karyotyping, and fragile X testing. Using array-based comparative genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17334992
DOI: 10.1002/ajmg.a.31636

Genes

DRG2
RAI1
RASD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.PMID 17334992Read ↗

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.Semantic proximity Read ↗

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.Semantic proximity Read ↗

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).Semantic proximity Read ↗

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.Semantic proximity Read ↗

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.Semantic proximity Read ↗

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.Semantic proximity Read ↗

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