2q31.2q32.3 deletion syndrome: report of an adult patient

Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688.


A 36-year-old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, "muscular build," and hand/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subsequent 75 kb array-CGH investigation disclosed a deletion spanning for about 13.7 Mb in the 2q31.2q32.3 region. Whole painting of chromosome 8 established the intrachromosomal nature of the rearrangement and FISH analysis with locus-specific probes confirmed the deletion on the long arm of chromosome 2. The deleted region, clinical outcome, and medical history in this patient are mainly superimposable to those reported in a published 8-year-old boy, suggesting that this genomic segment is prone to rearrangements and its hemizygosity gives rise to a clinically recognizable syndrome. The role of some genes mapping in the deleted region and related with distinct disorders is discussed. Interestingly, deletion of MSTN gene, a negative regulator of muscle growth, was associated in our patient with a "muscular build," a feature which could be regarded as a handle for clinical recognition of this syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion*
  • Chromosome Inversion
  • Chromosomes, Human, Pair 2 / genetics*
  • Chromosomes, Human, Pair 8 / genetics
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / genetics
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Male
  • Myostatin / genetics
  • Phenotype
  • Syndrome


  • MSTN protein, human
  • Myostatin