15q26.2～q26.3杂合缺失致青少年阵发性高血压1例

A case of adolescent paroxysmal hypertension caused by heterozygous deletion of 15q26.2-q26.3

摘要: 本文通过对一例17岁女性先证者及其父母、弟弟行全基因组测序并开展拷贝数变异（CNV）分析与家系共分离研究，探讨染色体15q26.2～q26.3新发缺失杂合突变与青少年阵发性继发性高血压及多系统表型的关系。

Abstract: The association between a de novo heterozygous deletion at chromosome 15q26.2-q26.3 and adolescent onset paroxysmal secondary hypertension along with multiple system phenotypes was investigated, through whole-genome sequencing of a 17-year-old female proband and her parents and brother, as well as copy number variations (CNV) analysis and family cosegregation studies.