国际生殖健康/计划生育杂志2017，Vol.36Issue(5)：408-411,4.
单亲二倍体染色体异常的研究进展
Progress in Uniparental Disomy-induced Chromosomal Abnormalities
摘要
Abstract
Uniparental disomy (UPD) is an uncommon chromosome condition,in which homologous chromosome or fragment are inherited from only one parent.UPD could lead to various clinical phenotypes due to either homozygosity of recessive mutations or aberrant patterns of imprinting.It cannot be effectively detected by conventional karyotyping,NIPT and CNV-sequence.In clinical work,the misdiagnosis could be usual because of the insufficient understanding of UPD or the limited detecting techniques.Here,we searched the UPD-related literatures and comprehensively summarized the pathophysiological mechanisms,clinical detecting techniques as well as the prevention and treatment of UPD.关键词
单亲二体性/染色体畸变/基因组印迹Key words
Uniparental disomy/Chromosome aberrations/Genomic imprinting引用本文复制引用
贾静,何梦舟,张婧怡,陈凯月,唐红菊..单亲二倍体染色体异常的研究进展[J].国际生殖健康/计划生育杂志,2017,36(5):408-411,4.基金项目
国家自然科学基金(41671497) （41671497）
