Ring chromosome 9: An atypical case

Giovanni Lanzi, Elisa Fazzi, Pierangelo Veggiotti, Emanuela Pagliano, Marisa Gariglio, Clara Bonaglia, Santo Landolfo

Research output: Contribution to journalArticlepeer-review


A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon or whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.

Original languageEnglish
Pages (from-to)216-219
Number of pages4
JournalBrain and Development
Issue number3
Publication statusPublished - May 1996


  • Interferon
  • Ring chromosome 9
  • Seizure

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology


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