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Article

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

European journal of medical genetics - 1 Jan 2000

Barøy Tuva, Misceo Doriana, Braaten Oivind, Helle Johan R, Fannemel Madeleine, Strømme Petter, Frengen Eirik

Abstract excerpt

We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20382277
DOI: 10.1016/j.ejmg.2010.03.010

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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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