- 期刊
Congenital Isolated Absence of Pulmonary Valve in a Neonate with Partial Trisomy 13q
13q部份參染色體症之先性單獨肺動脈瓣缺損：一病例報告
摘要
A term female newborn with partial trisomy 13q [46,XX, -18, +der(18) t(13;18) (l3qter-＞13q22::18q23-＞l8pter) pat], is described with unbalanced translocation and isolated absence of the pulmonary valve. The clinical manifestations included hypertelorism, corneal opacification, high arch palate, rocker-bottom feet, polydactyly (both hands and feet), respiratory distress and intractable congestive heart failure. Echocardiogram showed isolated absent pulmonary valve. This ponsents report such a combination in partial chromosome 13 trisomy.
並列摘要
A term female newborn with partial trisomy 13q [46,XX, -18, +der(18) t(13;18) (l3qter-＞13q22::18q23-＞l8pter) pat], is described with unbalanced translocation and isolated absence of the pulmonary valve. The clinical manifestations included hypertelorism, corneal opacification, high arch palate, rocker-bottom feet, polydactyly (both hands and feet), respiratory distress and intractable congestive heart failure. Echocardiogram showed isolated absent pulmonary valve. This ponsents report such a combination in partial chromosome 13 trisomy.
延伸閱讀
- 謝凱生、黃碧桃、孟春昌、蕭遺生（1979）。先天性單側肺動脈缺失或發育不全之三病例報告。Acta Paediatrica Sinica，20(4)，253-260。https://www.airitilibrary.com/Article/Detail?DocID=00016578-197912-20-4-253-260-a
- Wu, J. R., Huang, T. Y., Wang, C. T., & Lin, Y. T. (1992). 先天性肺動脈瓣膜缺失：兩病例報告及文獻回顧. The Kaohsiung Journal of Medical Sciences, 8(10), 562-568. https://doi.org/10.6452/KJMS.199210.0562
- 楊宏義、呂鴻基、王主科（1993）。法洛氏四合症合併肺動脈瓣缺失症：二病例報告。Acta Paediatrica Sinica，34(3)，228-236。https://www.airitilibrary.com/Article/Detail?DocID=00016578-199306-34-3-228-236-a
- Chin, W. L., Liu, I. T., Lin, C. W., Wang, H. K., Sun, C. K., & Hung, W. C. (2018). 腦膿瘍作為非遺傳之出血性血管擴張症的單一肺動靜脈畸形之第一個臨床表徵：個案報告. 台灣家庭醫學雜誌, 28(1), 38-44. https://doi.org/10.3966/168232812018032801005
- Tsai, C. T., Hwang, J. J., Tsai, W., & Chang, C. I. (1999). 急性肺栓塞在一心房中隔缺損及S蛋白缺乏病人之病例報告. 中華民國急救加護醫學會雜誌, 10(4), 173-180. https://doi.org/10.30018/JECCM.199912.0007