Duplication 18q21.31-q22.2

Caterina Ceccarini, Lorenzo Sinibaldi, Laura Bernardini, Roberto De Simone, Rita Mingarelli, Antonio Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.

Original languageEnglish
Pages (from-to)343-348
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Publication statusPublished - Feb 15 2007


  • Chromosome 18q
  • Chromosome duplication
  • Dysmorphisms
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)


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