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Article

Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.

American journal of medical genetics. Part A - 1 Feb 2014

Sánchez Javier, Fernández Raquel, Madruga Marcos, Bernabeu-Wittel José, Antiñolo Guillermo, Borrego Salud

Abstract excerpt

Angelman syndrome (AS, OMIM105830) is a neurogenetic disorder caused by different genetic mechanisms. Determining the genetic mechanism is essential to establish the recurrence risk and the accuracy of genetic/reproductive counseling. The majority of AS patients present with a deletion of the 15q11.2-q13 region on the maternally derived chromosome. The other genetic mechanisms are: paternal disomy of chromosome...

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Identifiers

PMID: 24311297
DOI: 10.1002/ajmg.a.36281

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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