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Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

机译：使用单个核苷酸多态性阵列的小超值标记染色体的分子描绘

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Background:Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics of sSMCs using a single nucleotide polymorphism (SNP) array.Results:Out of the 20,481 samples, 15 abnormal karyotypes with sSMC were detected (frequency: 0.073%) and the chromosomal origin was successfully identified by SNP array in 14 of them. The origin of sSMCs were mainly acrocentric-derived chromosomes and the Y chromosome. Two cases of sSMC combined with uniparental disomy (UPD) were detected, UPD(1) and UPD(22). More than half of the cases of sSMC involved mosaicism (8/15) and pathogenicity (9/15) in prenatal diagnosis. A higher prevalence of mosaicism for non-acrocentric chromosomes than acrocentric chromosomes was also revealed. One sSMC derived from chromosome 3 with a neocentromere revealed a 24.99-Mb pathogenic gain of the 3q26.31q29 region on the SNP array, which presented as an abnormal ultrasound indicating nasal bone hypoplasia.Conclusion:The clinical phenotypes of sSMCs are variable and so further genetic testing and parental karyotype analysis are needed to confirm the characteristics of sSMCs. The SNP array used here allows a detailed characterisation of the sSMC and establishes a stronger genotype-phenotype correlation, thus allowing detailed genetic counselling for prenatal diagnosis.? The Author(s) 2020.
机译：背景技术：定义小超值标志物染色体（SSMC）的表型基因型相关性仍然是产前诊断的挑战。我们使用单一核苷酸多态性（SNP）阵列核对20,481个羊水样品并探讨了SSMCs的分子特性。结果：从20,481个样品中，检测到具有SSMC的15个异常核型（频率：0.073％）和染色体原产地由其中14个中的SNP阵列成功识别。 SSMC的起源主要是上注染色体和Y染色体。检测到两种SSMC患者，与发单调性强生（UPD）结合，UPD（1）和UPD（22）。超过一半的SSMC涉及马赛克（8/15）和致病性（9/15）在产前诊断中。还揭示了非上注染色体对非上垂染色体的渐进率更高。衍生自染色体3的一个SSMC，其中NeocentRomere揭示了SNP阵列的3Q26.31Q1Q29区域的24.99mb致病增益，其呈现为异常超声，表明鼻骨发育不全。结论：SSMC的临床表型是可变的，因此SSMC的临床表型是可变的需要遗传测试和父母核型分析来确认SSMC的特征。这里使用的SNP阵列允许详细表征SSMC并建立更强的基因型 - 表型相关性，从而允许详细的遗传咨询进行产前诊断。？作者2020年。

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