Long survival case of trisomy 13 mosaicism in a 7-year-old male

概要

論文の詳細を見る
Trisomy 13 is a complication of various congenital abnormalities of the heart, brain, etc. Regarding the vitalprognosis, many die within a year from birth. We herein report on the case of a 7-year 1-month-old boywith mosaicism trisomy 13 with the two considerations mentioned below as the cause for long-term survivalin this case. The first is that there were no serious associated abnormalities to the heart, brain, or otherorgans, and the second is that a tracheotomy was carried out on a repeated respiratory infection with respiratoryfailure. Long-term in-home care was possible for the child and he was observed playing with toys bytouching them. Trisomy 13 has a poor vital prognosis, so some argue that active treatment should be restrained.However, for cases with no severe associated abnormalities, long-term survival may be possiblewith active treatment.
2012-03-25