Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result

Tamae Oe, Hidehito Inagaki, Takema Kato, Makiko Tsutsumi, Hiroki Kurahashi

Research output: Contribution to journalReview article

12 Citations (Scopus)


Constitutional t(11;22)(q23;q11) is the most frequent recurrent non-Robertsonian translocation in humans. Balanced carriers of t(11;22) usually manifest no clinical symptoms, and are often identified after the birth of offspring with an unbalanced form of this translocation, known as Emanuel syndrome. To determine the prevalence of the disorder, we sent surveillance questionnaires to 735 core hospitals in Japan. The observed number of Emanuel syndrome cases was 36 and that of t(11;22) balanced translocation carriers, 40. On the basis of the de novo t(11;22) translocation frequency in sperm from healthy men, we calculated the frequency of the translocations in the general population. Accordingly, the prevalence of Emanuel syndrome was estimated at 1 in 110 000. Based on this calculation, the estimated number of Emanuel syndrome cases in Japan is 1063 and of t(11;22) balanced translocation carriers, 16 604, which are much higher than the numbers calculated from the questionnaire responses. It is possible that this discordance is partly attributable to a lack of disease identification. Further efforts should be made to increase the awareness of Emanuel syndrome to ensure a better quality of life for affected patients and their families.

Original languageEnglish
Pages (from-to)462-466
Number of pages5
JournalPediatrics International
Issue number4
Publication statusPublished - 01-01-2014

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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