| 一例8q21.11缺失综合征患儿的临床表型与遗传学诊断 |
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| 引用本文： | 李素丽,吴维青,谢建生,李海飞. 一例8q21.11缺失综合征患儿的临床表型与遗传学诊断[J]. 中华医学遗传学杂志, 2021, 0(2): 145-149 |
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| 作者姓名： | 李素丽 吴维青 谢建生 李海飞 |
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| 作者单位： | 深圳市妇幼保健院 |
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| 基金项目： | 广东省医学科研基金(A2018213)。 |
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| 摘 要： | 目的:对1例角膜混浊新生儿进行染色体拷贝数变异分析，明确其遗传学病因。方法:应用常规G显带染色体核型分析技术分析患儿及其父母的外周血染色体核型，用全基因组低深度测序及单核苷酸多态性微阵列芯片(single nucleotide polymorphism array, SNP array)对患儿及其父母进行基因组拷贝数变...
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| 关 键 词： | 8q21.11缺失综合征 角膜混浊 拷贝数变异 ZFHX4基因 |
Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome |
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| Li Suli,Wu Weiqing,Xie Jiansheng,Li Haifei. Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome[J]. Chinese journal of medical genetics, 2021, 0(2): 145-149 |
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| Authors: | Li Suli Wu Weiqing Xie Jiansheng Li Haifei |
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| Affiliation: | (Medical Genetics Center,Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University,Shenzhen,Guangdong 518017,China) |
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| Abstract: | Objective To explore the genetic etiology for a newborn with corneal opacity.Methods The neonate and her parents were subjected to routine G-banding chromosomal karyotyping analysis.Copy number variation(CNV)was analyzed with low-coverage whole-genome sequencing(WGS)and single nucleotide polymorphism microarray(SNP array).Results No karyotypic abnormality was found with the newborn and her parents.Low-coverage WGS identified a de novo 5.5 Mb microdeletion at chromosome 8q21.11-q21.13 in the neonate which encompassed the ZFHX4 and PEX2 genes.The result was confirmed by SNP array-based CNV analysis.Conclusion The newborn was diagnosed with chromosome 8q21.11 deletion syndrome.ZFHX4 may be one of the key genes underlying the 8q21.11 microdeletion syndrome. |
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| Keywords: | 8q21.11 deletion syndrome Corneal opacity Copy number variation ZFHX4 gene |
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