Delineating a case with a complex karyotype by using combined genetic techniques / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease.</p><p><b>METHODS</b>G-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration.</p><p><b>RESULTS</b>The child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 7q21.11, respectively, which were verified by FISH.</p><p><b>CONCLUSION</b>Combined cytogenetic and molecular analysis can detect chromosome micrdeletions more precisely. The abnormalities of the child may be attributed to heterozygous deletion of ZEB2, ABCB4 and SEMA3A genes.</p>