- 期刊
Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements And Its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis
並列摘要
Objective: To present our experience of amniocentesis for the prenatal diagnosis of Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies. Case Report: From January 1987 to September 2009, six cases with rea(21q21q) Down syndrome were diagnosed among 31,194 patients who underwent amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. Cytogenetic analysis of parental blood lymphocytes was performed in each case, and polymorphic DNA markers were used to investigate the nature of the aberrant chromosome. Three of the six cases were associated with recurrence in subsequent pregnancies. The rea(21q21q) Down syndrome was associated with advanced maternal age in three cases, a previous child with rea(21q21q) Down syndrome in three cases, an abnormal maternal serum screening result in one case, and an abnormal ultrasound finding in one case. All six cases arose de novo. Among the six cases with molecular analysis results, all had isochromosome 21, five of which were determined to be of maternal origin. Conclusion: We found a frequency of 0.019% for rea(21q21q) Down syndrome in patients undergoing amniocentesis. Down syndrome caused by the homologous rearrangement rea(21q21q) can be associated with recurrence. Prenatal diagnosis of rea(21q21q) Down syndrome should include extensive cytogenetic and molecular analyses of the parents and probands.
延伸閱讀
- 華筱玲、柯滄銘（1997）。Obstetrics and Gynecology: Prental Maternal Serum Screening for Down's Syndrome。台灣醫學，1(4)，544-555。https://doi.org/10.6320/FJM.1997.1(4).19
- Chen, C. P., Su, Y. N., Tsai, F. J., Lin, H. H., Chern, S. R., Lee, M. S., Hwang, J. K., Chen, T. H. T., & Wang, W. (2009). Terminal 2Q Deletion and Distal 15Q Duplication: Prenatal Diagnosis by Array Comparative Genomic Hybridization Using Uncultured Amniocytes. Taiwanese Journal of Obstetrics & Gynecology, 48(4), 441-445. https://doi.org/10.29787/TJOG.200912.0024
- Chen, C. P., Su, Y. N., Chang, T. Y., Liu, Y. P., Tsai, F. J., Hwang, J. K., & Wang, W. (2009). Prenatal Magnetic Resonance Imaging, Ultrasound Imaging Findings and Genetic Analysis of Concomitant Rhabdomyomas and Cerebral Tuberous Sclerosis. Taiwanese Journal of Obstetrics & Gynecology, 48(3), 327-331. https://doi.org/10.29787/TJOG.200909.0029
- Ming-Ping Wu、Pao-Lin Kuo、Rong-Chang Wu、Wen-Ing Tzeng、Ching-Cherng Tzeng（1993）。Prenatal Diagnosis of Mosaic Trisomy 22 with Amniocentesis - A Case Report。Journal of Genetics and Molecular Biology，4(4)，59-62。https://doi.org/10.30047/JGMB.199312.0002
- Göktolga, Ü., Gezginç, K., Ceyhan, S. T., Fidan, U., Ergün, A., Bahçe, M., & Başer, I. (2008). Prenatal Diagnosis of Digeorge Syndrome. Taiwanese Journal of Obstetrics & Gynecology, 47(4), 441-442. https://doi.org/10.29787/TJOG.200812.0014