Prenatal diagnosis for a women with a suspected birth history of Angelman syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To verify the diagnosis of Angelman syndrome(AS) in a proband in order to provide prenatal diagnosis for his family.</p><p><b>METHODS</b>Array comparative genome hybridization(array-CGH) and fluorescence in situ hybridization(FISH) on metaphase chromosomes were performed.</p><p><b>RESULTS</b>The karyotype of the proband was normal, and a regional deletion of 15q11.1-11.2 was detected by array-CGH. FISH analysis has confirmed loss of heterozygosity in 15q11.2. No positive results were obtained by array-CGH or karyotype analysis. Amniotic fluid sample was taken from the proband's mother upon her subsequent pregnancy. The karyotype of the fetus was normal, but SNP microarray chip analysis has identified loss of heterozygosity in 8p23.1-p22. As no abnormality was observed by ultrasound and other prenatal examinations, the pregnancy was recommended to continue to full-term, and a healthy infant was born.</p><p><b>CONCLUSION</b>Clinically suspected AS can be diagnosed by array-CGH and FISH. The result may facilitate accurate genetic counseling and prenatal diagnosis for the affected family.</p>