title: A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.
abstract: Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered.
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Karina
authors.initials: K
authors.lastname: Griesi-Oliveira
authors.forename: Danielle de Paula
authors.initials: Dde P
authors.lastname: Moreira
authors.forename: Nicole
authors.initials: N
authors.lastname: Davis-Wright
authors.forename: Stephan
authors.initials: S
authors.lastname: Sanders
authors.forename: Christopher
authors.initials: C
authors.lastname: Mason
authors.forename: Guilherme Müller
authors.initials: GM
authors.lastname: Orabona
authors.forename: Estevão
authors.initials: E
authors.lastname: Vadasz
authors.forename: Débora Romeo
authors.initials: DR
authors.lastname: Bertola
authors.forename: Matthew W
authors.initials: MW
authors.lastname: State
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000328:Adult; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy; D024182:Uniparental Disomy / Q000235:genetics