Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification / 中华儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.</p><p><b>METHOD</b>MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.</p><p><b>RESULT</b>Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.</p><p><b>CONCLUSION</b>Three cases had 22q11 microdeletion in the congenital heart defects.</p>