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Article

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

European journal of medical genetics - 1 Jan 2000

Lespinasse James, Gimelli Stefania, Béna Frédérique, Antonarakis Stylianos E, Ansermet François, Paoloni-Giacobino Ariane

Abstract excerpt

Chromosomal imbalances, recognized as the major cause of mental retardation (MR), are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. Array-based comparative genomic hybridization (array-CGH) improves considerably the detection rate of submicroscopic chromosomal abnormalities and has proven to be an effective tool for detection of submicroscopic chromosome...

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Source

Identifiers

PMID: 18992376
DOI: 10.1016/j.ejmg.2008.10.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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