How to Cite this Article: Zhang Y, Li Y, Wang Y, Shan B, Duan Y. 2013. 8p23.1 Duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly. Am J Med Genet Part A 161A: 561–565.
8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly†
Article first published online: 12 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 561–565, March 2013
How to Cite
Zhang, Y., Li, Y., Wang, Y., Shan, B. and Duan, Y. (2013), 8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly. Am. J. Med. Genet., 161: 561–565. doi: 10.1002/ajmg.a.35596
- Issue published online: 21 FEB 2013
- Article first published online: 12 FEB 2013
- Manuscript Accepted: 1 JUL 2012
- Manuscript Received: 27 APR 2012
- Natural Science Foundation of China. Grant Number: 81160292
- array comparative genomic hybridization;
- 8p23.1 duplication;
8p23.1 duplication syndrome is a genomic condition with variable phenotype. Isolated 8p23.1 duplication is rare. Here, we report on additional isolated 8p23.1 duplication in a fetus with complete atrioventricular septal defect and right hand preaxial hexadactyly diagnosed by array comparative genomic hybridization (array-CGH). Array-CGH indicated an ∼1.43 Mb duplication between 8p23.1 olfactory receptor/defensin repeats (ORDRs) in this case, which contains 27 genes of which 21 are known and 6 are novel, including GATA4 and SOX7 and one micro-RNA gene. In order to better understanding the genotype–phenotype association of 8p23.1 duplications, we summarized the present case and 10 previously reported patients with isolated 8p23.1 duplications between ORDRs and found that minor anomalies (6/11), congenital heart defect (6/11), developmental delay (5/11), and neurodevelopmental problems (5/11) are recurrent manifestations in 8p23.1 duplication patients. Thus, we suggest that 8p23.1 duplications between ORDRs generally result in clinical phenotypes and the phenotypes vary between patients. Because true duplications and euchromatic variants (EVs) of 8p23.1 are cytogenetically indistinguishable and usually lead to different clinical results, it is necessary to differentiate 8p23.1 duplications from EVs using molecular cytogenetic techniques. © 2013 Wiley Periodicals, Inc.