Radial aplasia and chromosome 22q11 deletion

Maria Cristina Digilio, Aldo Giannotti, Bruno Marino, Anna Maria Guadagni, Marcello Orzalesi, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11.

Original languageEnglish
Pages (from-to)942-944
Number of pages3
JournalJournal of Medical Genetics
Issue number11
Publication statusPublished - 1997


  • Deletion 22q11
  • Radial anomaly
  • Upper limb anomaly
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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