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Article

False deletion of the D15S986 maternal allele in a suspected case of Angelman syndrome.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2015

Curcio Michele, Presciuttini Silvano

Abstract excerpt

BACKGROUND: Angelman syndrome (AS) is a neurological disorder caused by genetic defects of the chromosome region 15q11-q13; some 70-80% of cases are due to deletions of the maternal allele, as the paternal copy is imprinted. DESIGN AND METHODS: A maternal deletion at D15S986 was reported in a suspected case of AS; this marker is located in intron 2 of the ATP10C gene, which has been implicated in the development...

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PMID: 25451953
DOI: 10.1016/j.cca.2014.10.015

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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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