Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping.@*METHODS@#Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient.@*RESULTS@#The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2.@*CONCLUSION@#Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.