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題名 | Partial Trisomy 13 [46,XY,dup(13)(q14-31)]:A Case Report=第十三對部份三染色體[46,XY,dup(13)(q14-31)]:一例報告 |
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作者姓名(中文) | 歐家佑; 許德耀; 張榮州; 張旭陽; | 書刊名 | 長庚醫學 |
卷期 | 21:1 1998.03[民87.03] |
頁次 | 頁82-85 |
分類號 | 417.133 |
關鍵詞 | 部分3染色體; 唇裂; 裂侸; Partial trisomy; Cleft lip; Cleft pailate; |
語文 | 英文(English) |
中文摘要 | 本篇提出1例產前診斷第13對部份3染色體的病例[46,XY,dup(13)(q14-31)],發 現原由為孕婦是高齡產婦而接受羊膜穿刺,此染色體重複的郡份(13q14-31)在文獻上尚未 報導過,此病例在外觀上可見之異常有兔唇、顎裂、耳朵低、鼻樑塌、眼距過寬、內眥贅 皮,胎兒的解剖報告在頭面部除了臨床表徵外並無異常,其它器官包括中樞、心臟及泌尿 系統均正常,此外,此例之母血胎兒蛋白過高(2.6,MoM),與完全3染色體之表現剛好相反。 |
英文摘要 | We report a fetus with partial trisomy 13 [46,XY,dup(13)(q14-31)l which was found during an amniocentesis performed due to the age of the mother. This duplication segment (13q 14-31) has not been reported in literature. The clinical features of our patient included cleft lip/palate, low set ears, depressed nasal bridge, hypertelorism, and epicanthal fold. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and no other abnormalities, including central nervous, cardiac, and renal system, were found. The level of maternal alpha-fetoprotein, 2.67 MoM, was opposite with the common phenomenon in complete trisomy 13. |
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