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Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis,molecular genetic analysis and literature review |
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| Authors: | Chih-Ping Chen Ming Chen Yi-Ning Su Jian-Pei Huang Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Shun-Ping Chang Yu-Ting Chen Chen-Chi Lee Li-Feng Chen Chen-Wen Pan Wayseen Wang |
| Institution: | 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;g Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;h Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan;i Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan;j Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan;k Mackay Medicine, Nursing and Management College, Taipei, Taiwan;l Gene Biodesign Co. Ltd, Taipei, Taiwan;m Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;n Department of Bioengineering, Tatung University, Taipei, Taiwan |
| Abstract: | We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype–phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case. |
| Keywords: | OMIM Online Mendelian Inheritance in Man sSMC small supernumerary marker chromosome aCGH array comparative genomic hybridization FISH fluorescence in situ hybridization del deletion der derivative chromosome r ring chromosome mar marker chromosome inv inverted dup duplication mat maternal UPD uniparental disomy AFP α-fetoprotein CNS central nervous system QF-PCR quantitative fluorescent polymerase chain reaction IUGR intrauterine growth restriction MCB multicolor banding SKY spectral karyotyping NT nuchal translucency VSD ventricular septal defect PDA patent ductus arteriosus |
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