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 |
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| 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;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 |
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| 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. |
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| 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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