Abstract: Objective To understand genomic copy number variations (CNVs) and ascertain karyotype for a 46,X0,+der(?) fetus, and investigate possibility and superiority of array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis was carried out. The whole genome of the fetus was scanned and analysed by array-CGH. The results of array-CGH were confirmed by RT-qPCR. Results G-banded chromosome analysis showed the fetal karyotype was 46,X0,+der(?). Array-CGH revealed the derivative chromosome was Y chromosome without CNVs. A total number of 118 submicroscopic CNVs were identified. Comparable results between array-CGH and RT-qPCR were obtained for 9 novel CNVs. Conclusion Comparing with conventional cytogenetic analysis, array-CGH is of high resolution, high-throughput and high accuracy, which provides a powerful plateform for accurate detection of submicroscopic chromosomal aberrations.

Key words: array-based comparative genomic hybridization, copy number alterations, cytogenetic analysis, genotype-phenotype correlation