ABSTRACT
<p><b>OBJECTIVE</b>To explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication.</p><p><b>METHODS</b>Amniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis.</p><p><b>RESULTS</b>Chromosomal analysis suggested that the fetus and both parents all had a normal karyotype, while a duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 Mb duplication in chromosome 7q11.23, which was confirmed by FISH.</p><p><b>CONCLUSION</b>Combined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a case with 7q11.23 syndrome.</p>