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Article

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.

Gene - 15 Oct 2012

Madrigal Irene, Rodríguez-Revenga Laia, Xunclà Mar, Milà Montserrat

Abstract excerpt

Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. Here we report the clinical and molecular characterisation of a maternally inherited BP1-BP2 deletion in two siblings...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22842191
DOI: 10.1016/j.gene.2012.07.023

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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