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題名 | De Novo Chromosome Translocation t (2;11) (p25.1; p13) in a Patient with Aniridia and Genitourinary Abnormalities=染色體平衡性轉位合併無虹彩症及生殖泌尿道畸型:一病例報告 |
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作者姓名(中文) | 洪惠媚; 林士傑; 蘇本華; 陳家玉; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷期 | 44:2 民92.03-04 |
頁次 | 頁101-103+121 |
分類號 | 417.509 |
關鍵詞 | 無虹彩症; 尿道下裂; 隱睪症; 染色體11p13; Aniridia; Hypospadias; Cryptorchism; Chromosome 11 p13; |
語文 | 英文(English) |
中文摘要 | 無虹彩症爲一罕見疾病,其發生率平均爲1/64,000~96,000,其中三分之一的病例合併威姆氏腫瘤,而其餘三分之二則爲自體性遺傳,PAX6基因及WT1基因在無虹彩症及生殖泌尿道畸中分別扮演重要角色。本文報告男童罹患無虹彩症,眼瞼下垂、尿道下裂及隱睪症,其染色體核型爲46,XY,t(2;11)(p25.1;p13),我們認爲其PAX6與WT1基因受到影響。 |
英文摘要 | Aniridiais a rare condition occurring in 1 in 64,000 to] in 96,000 live births. Approximately one third of cases are sporadic and carry a 30% risk of Wilms’ tumor developing before the age of 5. The remaining 66% are inherited in an autosomal dominant fashion. The aniridia candidate gene (FAX6,) has a key role as a master regulator in the development of eye and central nervous tissues. The Wilms’ tumor predisposing gene (WTI) plays an important role in the development of genitourinary tract diseases such as hypospadias, cryptorchism, horse-shoe kidney, and Wilms’ tumor. The WTI and FAX6 genes are about 700 kb apart, with the WTI gene located centromeric to FAX6 in chromosome 11p13. We report a patient with incomplete aniridia, ptosis, hypospadias, and cryptorchism. Cytogenetic analysis revealed the presence of a de novo reciprocal translocation 46, XL, t (2; 11) (p25.1; p13,) without microscopic deletion. We suggest that haploinsufficiency in FAX6 and WTI genes resulted in aniridia and associated genitourinary abnormalities. |
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