Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication

M. Gentile, W. Wuyts, S. Grittani, A. Di Carlo, F. Cariola, P. Verdyck, L. Margari, T. Perniola, A. L. Buonadonna

Research output: Contribution to journalArticlepeer-review


We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of FPP genes identified an insertion mutation in the ALX4 gene (344insC) in the proband and her father with loss of function of the gene. The patient's phenotype is considered in the light of the results of the cytogenetic, FISH, and molecular investigations, and her features are compared with those of other patients with similar duplications. Finally, variable phenotypic findings due to different 22q duplicated chromosomal segments are discussed. Our report indicates that 22q12 interstitial duplications are associated with craniofacial anomalies and mild mental retardation, while life threatening malformations are usually not present. Although these phenotypic changes are common and non-specific, molecular study of our patient established more precise relationships between clinical findings and 22q duplicated region(s). This approach fosters better counseling of the families of patients with newly diagnosed, similar duplications.

Original languageEnglish
Pages (from-to)186-190
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume127 A
Issue number2
Publication statusPublished - Jun 1 2004


  • ALX4
  • Chromosome 22q duplication
  • FISH
  • Foramina parietalia permagna
  • Interstitial de novo duplication

ASJC Scopus subject areas

  • Genetics(clinical)


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