Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Autistic Disorder

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

Share to Chromosomes, Human, Pair 16

Share to DNA Copy Number Variations

Share to Gene Duplication

Share to Sequence Deletion

Share to Siblings

Share to Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

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

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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 ↗

The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.Semantic proximity Read ↗

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.Semantic proximity Read ↗

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.Semantic proximity Read ↗

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.Semantic proximity Read ↗

16p11.2 microdeletion syndrome: a case report.Semantic proximity Read ↗

Recurrent 16p11.2 microdeletions in autism.Semantic proximity Read ↗

[16p11.2 Microdeletion: first report in Argentina].Semantic proximity Read ↗

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.Semantic proximity Read ↗

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

Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.