Chromosome microarray analysis of four fetuses with abnormal karyotypes / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.</p><p><b>METHODS</b>Amniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.</p><p><b>RESULTS</b>Abnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.</p><p><b>CONCLUSION</b>CMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.</p>