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Keywords:

  • polygenic;
  • balanced translocation;
  • uniparental disomy chromosome 5;
  • duplication 5q11;
  • RHOXF2

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. © 2012 Wiley Periodicals, Inc.