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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 tra...

Topics

Adult
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 8
Family
Female
Humans
Infant
Male
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8149650-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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