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Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) |
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| Authors: | Chih-Ping Chen Meng-Ju Lee Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Meng-Shan Lee 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 Obstetrics and Gynecology, Hsinchu Mackay Memorial Hospital, Hsinchu, Taiwan;h Gene Biodesign Co. Ltd, Taipei, Taiwan;i Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;j Department of Bioengineering, Tatung University, Taipei, Taiwan |
| Abstract: | We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region. |
| Keywords: | aCGH array comparative genomic hybridization OMIM Online Mendelian Inheritance in Man QF-PCR quantitative fluorescent polymerase chain reaction WHS Wolf-Hirschhorn syndrome del deletion FISH fluorescence in situ hybridization BAC bacterial artificial chromosome |
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