Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth

Marina Tarsitano, Carlo Ceglia, Antonio Novelli, Anna Capalbo, Barbara Lombardo, Lucio Pastore, Gennaro Fioretti, Laura Vicari, Maria Antonietta Pisanti, Patrizia Friso, Maria Luigia Cavaliere

Research output: Contribution to journalArticlepeer-review


The 22q11.2 microduplication is a genomic disorder, characterized from a variable phenotype ranging from different defects to normality. The most common microduplication of 22q11.2 is 3 Mb in size, but there are also cases reported with atypical duplications between 0.8 Mb and 6 Mb. Here, we describe a case of a child with macrocephaly, overgrowth with advanced bone age, attention deficits, evidence of mild mental retardation and dysmorphic features. An array-CGH analysis detected a 252. Kb duplication at the 22q11.2 region inherited from mother and 142. Kb duplication at 8q22.1 region inherited from father. Both parents show mild dysmorphic features. The duplicated genes in chromosomes 22q and 8q are TOP3B and PGCP, respectively. We describe for the first time a patient carrying the smaller atypical 22q11.2 duplication who also presents with mild mental retardation and generalized overgrowth. This patient has an additional duplication in 8q22.1 which may act as a genomic modifier of its clinical phenotype.

Original languageEnglish
Pages (from-to)213-216
Number of pages4
Issue number1
Publication statusPublished - Feb 15 2014


  • 22q11.2 Microduplication
  • Macrocephaly
  • Overgrowth

ASJC Scopus subject areas

  • Genetics


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