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Article

Direct transmission of a tandem duplication in the short arm of chromosome 8.

Clinical genetics - 1 Jan 1994

Dhooge C, Van Roy N, Craen M, Speleman F

Abstract excerpt

A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.

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Identifiers

PMID: 8149650
DOI: 10.1111/j.1399-0004.1994.tb03987.x

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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.

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