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Article

A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype.

American journal of medical genetics. Part A - 15 Oct 2004

Barwell Julian, Mazzaschi Roberto, Bint Sue, Ogilvie Caroline Mackie, Elmslie Frances

Abstract excerpt

An 8-year-old girl was referred to the Genetics Centre with mild developmental delay, mild dysmorphic features, and a head circumference on the 98th centile. She was noted to have large irregular ear lobes, torticollis, and mild hemihypertrophy. Karyotype analysis of cultured peripheral lymphocytes and skin fibroblasts revealed the presence of a symmetrical supernumerary marker chromosome in 13% of cells from...

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Identifiers

PMID: 15378552
DOI: 10.1002/ajmg.a.30208

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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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A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype.PMID 15378552Read ↗

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