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Article

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.

Human genetics - 1 Sept 2002

Fisher Andrew M, Thomas N Simon, Cockwell Annette, Stecko Olga, Kerr Bronwyn, Temple I Karen, Clayton Peter

Abstract excerpt

Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature. We present three unrelated patients with maternal duplications of distal 11p. Patient 1 is a 31-year-old female with a de novo inverted duplication of distal 11p, i.e. inv dup del(11)(qter-->p15.5::p15.5-->15.3); this rearrangement...

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PMID: 12215843
DOI: 10.1007/s00439-002-0787-2

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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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