TY - JOUR AU - Li, Tingting AU - Sang, Haiquan AU - Chu, Guoming AU - Zhang, Yuanyuan AU - Qi, Manlong AU - Liu, Xiaoliang AU - Cui, Wanting AU - Zhao, Yanyan PY - 2020 DA - 2020/07/14 TI - Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes JO - Molecular Cytogenetics SP - 30 VL - 13 IS - 1 AB - Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are usually observed first by karyotyping, and further analysis of their molecular origin is important in clinical practice. Next-generation sequencing (NGS) combined with Sanger sequencing helps to identify the chromosomal origins of sSMCs and correlate certain sSMCs with a specific clinical picture. SN - 1755-8166 UR - https://doi.org/10.1186/s13039-020-00494-2 DO - 10.1186/s13039-020-00494-2 ID - Li2020 ER -