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Prevalence of E manuel syndrome: Theoretical frequency and surveillance result
Author(s) -
Ohye Tamae,
Inagaki Hidehito,
Kato Takema,
Tsutsumi Makiko,
Kurahashi Hiroki
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12437
Subject(s) - medicine
Constitutional t(11;22)(q23;q11) is the most frequent recurrent non‐ R obertsonian 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 E manuel syndrome. To determine the prevalence of the disorder, we sent surveillance questionnaires to 735 core hospitals in J apan. The observed number of E manuel 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 E manuel syndrome was estimated at 1 in 110 000. Based on this calculation, the estimated number of E manuel syndrome cases in J apan 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 E manuel syndrome to ensure a better quality of life for affected patients and their families.