Application of chromosome microarray analysis for patients with skeletal anomalies and a normal karyotype / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze patients with skeletal anomalies (SA) but a normal karyotype using chromosome microarray analysis (CMA).</p><p><b>METHODS</b>From June 2012 to May 2015, 43 children found to have skeletal anomalies with or without other abnormalities were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with Affymetrix CytoScan 750 kb arrays following the manufacturer's protocol. The results were analyzed with CHAS v2.0 software.</p><p><b>RESULTS</b>Two patients (4.65%) were detected with an abnormal karyotype. The remaining 41 patients with a normal karyotype were classified into 3 groups isolated SA (n=17), SA with mental retardation (n=6), and SA with other structural anomalies (n=18). Clinically significant copy number variations (CNVs) were found in 21.95% (9/41) of the cases, which included 17.65% (3/17) with isolated SA, 33.33% (2/6) with SA and mental retardation, and 22.22% (4/18) of SA with other structural deformities.</p><p><b>CONCLUSION</b>Whole-genome CMA can detect clinically significant CNVs which may not be found by conventional karyotyping analysis and increase the detection rate by approximately 21.95%. It may be recommended for patients with SA but a normal karyotype.</p>