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Article

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.

Psychiatric genetics - 1 Jun 2008

Vincent John B, Choufani Sanaa, Horike Shin-ichi, Stachowiak Beata, Li Martin, Dill Fred J, Marshall Christian, Hrynchak Monica, Pewsey Elizabeth, Ukadike Kennedy C, Friedman Jan M, Srivastava Anand K, Scherer Stephen W

Abstract excerpt

OBJECTIVES: Our aim is to use information from cytogenetic anomalies to identify candidate genes for autism. METHODS: We have identified a male patient with mental retardation and autism who has a balanced translocation involving chromosomes 6 and 7, described as t(6;7)(p11-p12;q22). This translocation was inherited from an apparently normal father. RESULTS: Using fluorescence in situ hybridization, we have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18496206
DOI: 10.1097/YPG.0b013e3282f97df7

Genes

NPTX2

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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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