Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes.
作者： Chih-Ping Chen , Shuenn-Dyh Chang , Ho-Yen Chueh , Yi-Ning Su , Jun-Wei Su
DOI: 10.1016/J.TJOG.2012.07.035
关键词:
摘要:
core.ac.uk
sci-hub.se 参考文章(13)
Jillian Cross, Greg Peters, Zhanhe Wu, Jesper Brohede, Garry N. Hannan, Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray Prenatal Diagnosis. ,vol. 27, pp. 1197- 1204 ,(2007) , 10.1002/PD.1884
Wayseen Wang, Chih-Ping Chen, Ming Chen, Yi-Ju Pan, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Yu-Ting Chen, Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review Taiwanese Journal of Obstetrics & Gynecology. ,vol. 50, pp. 331- 338 ,(2011) , 10.1016/J.TJOG.2011.07.013
Celia Donaghue, Kathy Mann, Zoe Docherty, Caroline Mackie Ogilvie, Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenatal Diagnosis. ,vol. 25, pp. 65- 72 ,(2005) , 10.1002/PD.1086
Robert Wallerstein, Ming-Tsung Yu, Richard L. Neu, Peter Benn, Catherine Lee Bowen, Barbara Crandall, Christine Disteche, Roger Donahue, Betty Harrison, Douglas Hershey, Rodney R. Higgins, Lauren S. Jenkins, Colleen Jackson-Cook, Elizabeth Keitges, Gabriel Khodr, C. C. Lin, Frederick W. Luthardt, Lorraine Meisner, Gregory Mengden, Shivanand R. Patil, Maria Rodriguez, Leonard J. Sciorra, Lisa G. Shaffer, Gail Stetten, Daniel L. Van Dyke, Hungshu Wang, Fran Williams, Ann-Leslie Zaslav, Lillian Y. F. Hsu, Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations Prenatal Diagnosis. ,vol. 20, pp. 103- 122 ,(2000) , 10.1002/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K
Eyby Leon, Ying S. Zou, Jeff M. Milunsky, Mosaic down syndrome in a patient with low‐level mosaicism detected by microarray American Journal of Medical Genetics Part A. ,vol. 152, pp. 3154- 3156 ,(2010) , 10.1002/AJMG.A.33739
Elizabeth T. Lau, Linda Tang, Cherry Wong, Lam Yung Hang, A. Ghosh, W. C. Leung, W. K. Sin, T. K. Lau, Y. Y. Kung, Mary H. Y. Tang, Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture Prenatal Diagnosis. ,vol. 29, pp. 151- 155 ,(2009) , 10.1002/PD.2194
Mikyong Shin, Csaba Siffel, Adolfo Correa, Survival of children with mosaic Down syndrome. American Journal of Medical Genetics Part A. ,vol. 152, pp. 800- 801 ,(2010) , 10.1002/AJMG.A.33295
Blake C. Ballif, Emily A. Rorem, Kyle Sundin, Matt Lincicum, Shannon Gaskin, Justine Coppinger, Catherine D. Kashork, Lisa G. Shaffer, Bassem A. Bejjani, Detection of low-level mosaicism by array CGH in routine diagnostic specimens. American Journal of Medical Genetics Part A. ,vol. 140, pp. 2757- 2767 ,(2006) , 10.1002/AJMG.A.31539
Chih-Ping Chen, Fang-Yu Hung, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Chen-Chi Lee, Yu-Ting Chen, Wen-Lin Chen, Wayseen Wang, Prenatal diagnosis of mosaic trisomy 9. Taiwanese Journal of Obstetrics & Gynecology. ,vol. 50, pp. 549- 553 ,(2011) , 10.1016/J.TJOG.2011.10.031
Chih-Ping Chen, Yi-Ning Su, Shin-Yu Lin, Schu-Rern Chern, Yu-Ting Chen, Meng-Shan Lee, Wayseen Wang, Prenatal diagnosis of mosaic trisomy 2: Discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction Taiwanese Journal of Obstetrics & Gynecology. ,vol. 50, pp. 390- 393 ,(2011) , 10.1016/J.TJOG.2011.07.011