Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

doi:10.1002/ajmg.b.32627

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Article

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jun 2018

Wolfe Kate, McQuillin Andrew, Alesi Viola, Boudry Labis Elise, Cutajar Peter, Dallapiccola Bruno, Dentici Maria Lisa, Dieux-Coeslier Anne, Duban-Bedu Benedicte, Duelund Hjortshøj Tina, Goel Himanshu, Loddo Sara, Morrogh Deborah, Mosca-Boidron Anne-Laure, Novelli Antonio, Olivier-Faivre Laurence, Parker Jennifer, Parker Michael J, Patch Christine, Pelling Anna L, Smol Thomas, Tümer Zeynep, Vanakker Olivier, van Haeringen Arie, Vanlerberghe Clémence, Strydom Andre, Skuse David, Bass Nick

Abstract excerpt

Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional...

Topics

Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Chromosomes, Human, Pair 2

DNA Copy Number Variations

Developmental Disabilities

Female

Gene Duplication

Humans

Intellectual Disability

Male

Mental Disorders

Phenotype

United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 29603867
DOI: 10.1002/ajmg.b.32627
PMCID: PMC6001478

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