Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate clinical features and the diagnosis by fluorescence in situ hybridization (FISH) of 22q11 microdeletion syndrome (22q11 DS).</p><p><b>METHODS</b>The clinical data of suspects were analyzed, and their peripheral blood samples were tested by FISH for microdeletion of 22q11. The diagnosis and correlated clinical factors of 22q11 DS were investigated by using the multiple factor Logistic regression analysis and Chi-square test.</p><p><b>RESULTS</b>In 64 suspects, 14 were shown to have 22q11 microdeletion with many different types of malformation, and the percentage was 21.9%. The Logistic regression predictive equation for 22q11 DS was y=-8.206+2.324x1+2.725x2+1.674x3, P=exp(y)/[1+exp(y)], in which the concomit ant variables were facial dysmorphic features (x1), congenital heart defects (x2), thymus scarcity/infection problem (x3), the P value meant the probability of diagnosis of 22q11 DS.</p><p><b>CONCLUSION</b>Accurate clinical evaluation is just as preliminary screening to patients at risk for del22q11. The results of FISH test can be predicted by using the suitable Logistic regression equation.</p>