Peng Dai, Xiaofan Zhu, Yanzheng Pei, Peng Chen, Jingjing Li, Zhi Gao, Yu Liang, Xiangdong Kong.
Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low resolution. Bionano optical genome mapping (OGM) developed in recent years can be used to analyze chromosomal abnormalities at a higher resolution, providing the possibility of more in-depth analyses of balanced chromosome translocations.
