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

Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela Rogaia, Carmela Ardisia, Antonio Novelli, Bruno Dallapiccola, Emilio Donti

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)706-712
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number4
DOIs
Publication statusPublished - Apr 2009

Keywords

  • 2q31.2q32.3 deletion syndrome
  • Array-CGH
  • Behavioral problems
  • Chromosome 2
  • Ehlers-Danlos syndrome
  • FRZB
  • Mental retardation
  • MSTN
  • Muscular build

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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