Results of a questionnaire survey among members of the patients' association of ring chromosome 14 syndrome

Abstract

  We report the results of a questionnaire survey conducted among six patients registered in the patients' association of ring chromosome 14 syndrome- “Paper Airplane,” with their families' consent. All patients had developmental delay and intractable epilepsy requiring multidrug therapy. The severity varied between cases, and the most common complications in half of the cases were otitis media, short stature, and microcephaly. It is advised to perform chromosomal examinations even if only infancy onset intractable epilepsy, and the other nonspecific symptoms are present.