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Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) associated with coarctation of the aorta,ventriculomegaly and thickened nuchal fold |
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| Authors: | Chih-Ping Chen Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Li-Feng Chen 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 Medicine, Mackay Medical College, New Taipei City, Taiwan;4. Department of Biotechnology, Asia University, Taichung, Taiwan;5. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;6. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;g Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, 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 rapid aneuploidy diagnosis of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case. |
| Keywords: | MoM multiples of the median AFP α-fetoprotein dup duplication del deletion aCGH array comparative genomic hybridization FISH fluorescence in situ hybridization BAC bacterial artificial chromosome t translocation der derivative QF-PCR quantitative fluorescent polymerase chain reaction |
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