Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits

Maria Paola Recalcati, Emanuele Valtorta, Lorenza Romitti, Daniela Giardino, Emanuela Manfredini, Roberto Vaccari, Lidia Larizza, Palma Finelli

Research output: Contribution to journalArticlepeer-review


There have been reports that a number of patients with a chromosome 18pter deletion have developed autoimmune disorders, including juvenile diabetes, rheumatoid arthritis, thyroiditis and Graves' disease, and/or show little or no reduction in serum IgA levels.We describe two female patients bearing complex rearrangements involving chromosome 18p. Array-CGH and BAC FISH molecular cytogenetic analyses enabled the precise identification of the affected 18p region. One patient has a 2 Mb terminal deletion associated with a 9.2 Mb inverted duplication of the adjacent region; the other has a more extended 10.1 Mb terminal deletion associated with a 4.1 Mb quadruplication of the adjacent region and a 2.6 Mb duplication of the pericentromeric region.Both patients have dysmorphic features typical of 18p deletion syndrome, such as growth retardation, epicanthal folds, a long philtrum and toe defects, and are also affected by immunological disorders. One has a form of immunological deficiency that takes the form of recurrent pulmonary infections and low IgA levels; the other has an autoimmune form of juvenile rheumatoid arthritis.Relating the refined molecular cytogenetic characterisation of these 18p chromosomal rearrangements to the patients' specific clinical characteristics can improve our understanding of the role of the 18p region in immune responses.

Original languageEnglish
Pages (from-to)186-191
Number of pages6
JournalEuropean Journal of Medical Genetics
Issue number4
Publication statusPublished - Jul 2010


  • 18P deletion syndrome
  • Chromosome 18p
  • Immunity disorder
  • U-type exchange mechanism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)


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