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8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly

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收录情况： ◇ SCIE

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机构： [1]Department of Clinical Laboratory, The First Affiliated Hospital of Kunming Medical University, Yunnan Province, P. R. China

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关键词： array comparative genomic hybridization 8p23 1 duplication genotype phenotype

摘要：

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 approximate to 1.43Mb 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 genotypephenotype 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. (c) 2013 Wiley Periodicals, Inc.

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出版当年[2014]版：

大类 | 4 区生物

小类 | 4 区遗传学

最新[2023]版：

大类 | 4 区生物学

小类 | 4 区遗传学

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出版当年[2013]版：

Q3 GENETICS & HEREDITY

最新[2023]版：

Q3 GENETICS & HEREDITY

影响因子： 1.7 最新[2023版] 2.2 最新五年平均 2.048 出版当年[2013版] 2.305 出版当年五年平均 2.304 出版前一年[2012版] 2.159 出版后一年[2014版]

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第一作者机构： [1]Department of Clinical Laboratory, The First Affiliated Hospital of Kunming Medical University, Yunnan Province, P. R. China

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通讯机构： [*1]Department of Clinical Laboratory, The First Affiliated Hospital of Kunming Medical University, Yunnan Province 650032, P. R. China

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