Chromosome 22q11.2 deletion syndrome: prenatal diagnosis,array comparative genomic hybridization characterization using uncultured amniocytes and literature review |
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| Authors: | Chih-Ping Chen Jian-Pei Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Jun-Wei Su Yu-Ting Chen Wen-Lin Chen 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 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 Mackay Medicine, Nursing and Management College, Taipei, Taiwan;i Gene Biodesign Co. Ltd, Taipei, Taiwan;j Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan;k Department of Bioengineering, Tatung University, Taipei, Taiwan |
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| Abstract: | We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot. |
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| Keywords: | aCGH, array comparative genomic hybridization OMIM, Online Mendelian Inheritance in Man DGS, DiGeorge syndrome VCFS, velocardiofacial syndrome del, deletion MLPA, multiplex ligation-dependent probe amplification VSD, ventricular septal defect FISH, fluorescence in situ hybridization DORV, double-outlet right ventricle TOF, tetralogy of Fallot CTHM, conotruncal heart malformations ASD, atrial septal defect AVSD, atrioventricular septal defect |
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