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

<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>

22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).</p><p><b>METHODS</b>Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).</p><p><b>RESULTS</b>The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>CONCLUSION</b>The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.</p>