 |
English
|
正體中文
|
简体中文
|
全文筆數/總筆數 : 29490/55136 (53%)
造訪人次 : 1506216
線上人數 : 598
|
|
|
資料載入中.....
|
請使用永久網址來引用或連結此文件:
http://ir.cmu.edu.tw/ir/handle/310903500/2762
|
| 題名: | Kabuki syndrome in a female with mosaic 45,X/47,XXX and aortic coarctation. |
| 作者: | 陳持平(Chih-Ping Chen);(Shuan-Pei Lin);蔡輔仁(Fuu-Jen Tsai);(Schu-Rern Chern);(Wayseen Wang) |
| 貢獻者: | 中醫學院中醫學系學士班中醫內科學科 |
| 關鍵詞: | Aortic coarctation;Kabuki syndrome;mosaic 45,X/47,XXX;Turner syndrome |
| 日期: | 2008-06 |
| 上傳時間: | 2009-08-20 17:56:28 (UTC+8) |
| 摘要: | Objective: To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation.
Design: Descriptive case study.
Setting: Tertiary medical center.
Patient(s): A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and
a peculiar facial appearance.
Intervention(s): None.
Main Outcome Measure(s): Cytogenetic analysis.
Result(s): The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures,
everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic
folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic
analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells].
Conclusion(s): This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize
that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities. (Fertil Steril 2008;89:1826.e5–7. |
| 關聯: | FERTILITY AND STERILITY 89(6):1826e5~1826e7 |
| 顯示於類別: | [中醫學系暨碩博班] 期刊論文
|
文件中的檔案:
| 檔案 |
大小 | 格式 | 瀏覽次數 |
|---|
| 0Kb | Unknown | 645 | 檢視/開啟 |
|
在CMUR中所有的資料項目都受到原著作權保護.
|
