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

Abstract

OBJECTIVE\nTo explore the genetic etiology for a newborn with corneal opacity.\n\n\nMETHODS\nThe 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).\n\n\nRESULTS\nNo 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.\n\n\nCONCLUSION\nThe newborn was diagnosed with chromosome 8q21.11 deletion syndrome. ZFHX4 may be one of the key genes underlying this syndrome.