Malformation syndrome with t(2;22) in a cancer family with chromosome instability

Ivana Magnani, Lidia Larizza, Luisa Doneda, Leonor Weitnauer, Renato Rizzi, Roberto Di Lernia

Research output: Contribution to journalArticlepeer-review


A de novo unbalanced t(2;22)(q21;q37), resulting in the deletion of the 22pter-q11 and 2q37-qter regions, was observed in a 12-year-old girl born with a congenital malformation syndrome and later displaying signs of neurologic impairment. Some of the clinical signs observed appear to overlap those found in subjects monosomic in the 22q11 region affected by the DiGeorge syndrome. The chromosomal rearrangement observed may be related to a familial cytogenetic instability that also gives rise to sustained cancer predisposition.

Original languageEnglish
Pages (from-to)223-227
Number of pages5
JournalCancer Genetics and Cytogenetics
Issue number2
Publication statusPublished - 1989

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology


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