- 期刊
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
並列摘要
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.
延伸閱讀
- Liao, S. L., Huang, S. F., Lin, J. L., Lai, S. H., Chou, Y. H., & Kuo, C. Y. (2003). 心髒及骨骼肌之粒線體病變，先天性白內障及高乳酸血症候群：一家族病例報告. Acta Paediatrica Taiwanica, 44(6), 360-364. https://doi.org/10.7097/APT.200312.0360
- Chen, S. C., Chueh, S. C., Tsai, T. C., Chuang, S. M., Hsieh, T. S., Chen, J., & Chiu, T. Y. (1991). 尿道下裂患者染色體分析之研究. 中華民國泌尿科醫學會雜誌, 2(4), 600-607. https://doi.org/10.7024/JUAROC.199112.0600
- Hsieh, C. H., Huang, T. H., Law, H. S., & Lin, M. C. (1998). 後天性下視丘分泌功能異常合併單純黃體激素缺乏症－病例報告. 中華民國泌尿科醫學會雜誌, 9(1), 36-40. https://doi.org/10.7024/JUAROC.199803.0036
- Huang, L. W., Chen, M. R., Lin, S. P., Huang, F. Y., Ho, M. Y., Kao, H. A., Hsu, C. H., Hung, H. Y., & Tsai, T. C. (1995). VATER聯合畸形－未經染色體檢查之46病例分析. Acta Paediatrica Sinica, 36(1), 30-34. https://doi.org/10.7097/APS.199502.0030
- Su, P. H., Kuo, P. L., Chen, S. J., Chen, J. Y., Yu, J. S., Liu, Y. L., & Kao, I. W. (2007). 歌舞伎臉症合併鑲嵌型環狀X染色體及XIST基因不完全表現. Acta Paediatrica Taiwanica, 48(1), 28-31. https://doi.org/10.7097/APT.200702.0028