Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2 |
| |
| Authors: | Chih-Ping Chen Ming Chen Shun-Ping Chang Fang-Yu Hung Meng-Ju Lee Schu-Rern Chern Peih-Shan Wu Yen-Ni Chen Shin-Wen Chen Chen-Chi Lee Dai-Dyi Town Wen-Lin Chen Wayseen Wang |
| |
| Affiliation: | 1. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan;3. Department of Biotechnology, Asia University, Taichung, Taiwan;4. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;5. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;6. Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;7. Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;8. Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;9. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan;10. Department of Obstetrics and Gynecology, MacKay Memorial Hospital Hsinchu Branch, Hsinchu, Taiwan;11. Stork Fertility Center, Hsinchu, Taiwan;12. Gene Biodesign Co. Ltd, Taipei, Taiwan;13. Department of Bioengineering, Tatung University, Taipei, Taiwan |
| |
| Abstract: | ObjectiveWe present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 2.Case ReportA 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[10]/46,XY[12]. The parental karyotypes were normal. Array comparative genomic hybridization analysis of the DNA extracted from cultured amniocytes revealed no genomic imbalance. Spectral karyotyping analysis failed to identify the sSMC. Metaphase fluorescence in situ hybridization analysis using the satellite probes CEP1/5/19, CEP2, CEP3, CEP4, CEP6, CEP7, CEP8, CEP9, CEP10, CEP12, CEP13/21, CEP14/22, CEP15, CEP16, and CEP20 revealed a result of 47,XY,+mar .ish der(2)(D2Z+)[10]. The sSMC was derived from the α satellite of chromosome 2. Polymorphic DNA marker analysis using the markers specific for chromosome 2 on the DNAs extracted from cultured amniocytes and parental bloods excluded uniparental disomy 2. At 39 weeks of gestation, a healthy 3394-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 47,XY,+mar[21]/46,XY[19].ConclusionArray comparative genomic hybridization and spectral karyotyping may fail to detect an sSMC derived from α satellite, which needs satellite probes for confirmation. |
| |
| Keywords: | chromosome 2 mosaicism prenatal diagnosis small supernumerary marker chromosome |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
