Prenatal diagnosis of 22q11 microdeletion syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.</p><p><b>METHODS</b>BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.</p><p><b>RESULTS</b>22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.</p><p><b>CONCLUSION</b>The combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.</p>