Journal of Japanese Society of Genetic Nursing
Online ISSN : 2436-9098
Print ISSN : 1881-3267
ISSN-L : 1881-3267
Volume 14, Issue 2
Displaying 1-1 of 1 articles from this issue
  • Simon J. H. Elderton, Chiaki Kitamura, Satoko Nakagomi, Masato Nagayo ...
    2016 Volume 14 Issue 2 Pages 53-63
    Published: March 31, 2016
    Released on J-STAGE: February 23, 2024

     22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder that can affect almost every organ and system in the body. The highly variable nature of expression and severity has contributed to both clinical and public under-recognition. A literature review was conducted to gain a current understanding of the main characteristics of 22q11.2DS and the implications for long-term management of this complex multi-system genetic disorder over the lifetime of the affected individual. From a search of Japan Medical Abstract Society, CINAHL, MEDLINE and Google Scholar databases 16 studies were identified as being relevant to the goals of the review. A content analysis of the studies focusing on the key areas of definition of 22q11.2DS, testing and diagnosis, clinical diagnosis, presentations and management was conducted. The results clarified the need for multi-disciplinary, coordinated management systems to support effective long-term care of 22q11.2DS affected individuals and their families. The findings lead to the conclusion that it is necessary to identify and develop suitable support systems for 22q11.2DS patients and their families in Japan.

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