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Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes

机译：75例小超值标记染色体患者的基因型 - 表型相关性

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Background:Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are usually observed first by karyotyping, and further analysis of their molecular origin is important in clinical practice. Next-generation sequencing (NGS) combined with Sanger sequencing helps to identify the chromosomal origins of sSMCs and correlate certain sSMCs with a specific clinical picture.Results:Karyotyping identified 75 sSMCs in 74,266 samples (0.1% incidence). The chromosomal origins of 27 of these sSMCs were detected by sequencing-related techniques (NGS, MLPA and STR). Eight of these sSMCs are being reported for the first time. sSMCs mainly derived from chromosomal X, Y, 15, and 18, and some sSMC chromosomal origins could be correlated with clinical phenotypes. However, the chromosomal origins of the remaining 48 sSMC cases are unknown. Thus, we will develop a set of economical and efficient methods for clinical sSMC diagnosis.Conclusions:This study details the comprehensive characterization of 27 sSMCs. Eight of these sSMCs are being reported here for the first time, providing additional information to sSMC research. Identifying sSMCs may reveal genotype-phenotype correlations and integrate genomic data into clinical care.? The Author(s) 2020.
机译：背景：小型上数标志物染色体（SSMC）是人口中罕见的结构异常;然而，它们经常在儿童或胎儿中发现，具有低血压和不孕症的成年人。 SSMC通常通过核型分类首先观察，并进一步分析其分子来源在临床实践中是重要的。结合Sanger测序的下一代测序（NGS）有助于鉴定SSMCs的染色体起源，并将某些SSMC与特定临床图像相关联。结果：核型分类鉴定在74,266个样品中鉴定了75个SSMC（0.1％的发病率）。通过测序相关的技术（NGS，MLPA和STR）检测这些SSMC中的27个染色体的起源。第一次报告这些SSMC中的八个。 SSMC主要来自染色体X，Y，15和18，一些SSMC染色体起源可以与临床表型相关。然而，剩余的48个SSMC病例的染色体起源是未知的。因此，我们将开发一套经济高效的临床SSMC诊断方法。结论：本研究详细介绍了27个SSMC的综合表征。这是第一次报告这些SSMC中的八个，为SSMC研究提供了额外的信息。鉴定SSMC可以揭示基因型 - 表型相关性并将基因组数据整合到临床护理中。作者2020年。

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