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Article

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

European journal of human genetics : EJHG - 1 May 2012

Tabet Anne-Claude, Pilorge Marion, Delorme Richard, Amsellem Frédérique, Pinard Jean-Marc, Leboyer Marion, Verloes Alain, Benzacken Brigitte, Betancur Catalina

Abstract excerpt

The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5-30.1 Mb) are associated with autism, intellectual disability (ID) and other neurodevelopmental disorders. Another recognizable but less...

Topics

Abnormalities, Multiple
Adolescent
Adult
Autistic Disorder
Chromosomes, Human, Pair 16
DNA Copy Number Variations
Gene Duplication
Humans
Male
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Deletion

Siblings

Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

PMID: 22234155
DOI: 10.1038/ejhg.2011.244
PMCID: PMC3330222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.PMID 22234155Read ↗

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.Semantic proximity Read ↗

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.Semantic proximity Read ↗

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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Semantic proximity Read ↗

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