Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome].

Suli Li, Weiqing Wu, Jiansheng Xie, Haifei Li

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Feb 10

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To explore the genetic etiology for a newborn with corneal opacity. 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). No karyotypic abnormality was found in the newborn and her parents. Low-coverage WGS has 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. The newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.

Citation

Suli Li, Weiqing Wu, Jiansheng Xie, Haifei Li. Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021 Feb 10;38(2):145-149