Ontology highlight
ABSTRACT:
SUBMITTER: Pan Q
PROVIDER: S-EPMC4878739 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Pan Qiong Q Hu Hao H Han Liangrong L Jing Xin X Liu Hailiang H Yang Chuanchun C Zhang Fengting F Hu Yue Y Yue Hongni H Ning Ying Y
PloS one 20160524 5
Complex chromosome rearrangements (CCRs), which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS) and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS and conventional techniques including G-banding, fluorescence in situ hybridization (FISH) and PCR. The girl demonstrated CCRs involving chrom ...[more]