一名患有46,XX卵睾型性发育障碍患者的基因重复将SOX9睾丸特异性调控区域缩小至24 kb。
A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.
作者信息
Ohnesorg T, van den Bergen J A, Belluoccio D, Shankara-Narayana N, Kean A-M, Vasilaras A, Ewans L, Ayers K L, Sinclair A H
机构信息
Molecular Development, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
Department of Genomics, Agilent Technologies Inc., Mulgrave, Victoria, Australia.
出版信息
Clin Genet. 2017 Sep;92(3):347-349. doi: 10.1111/cge.12976. Epub 2017 Mar 19.
PMID:28317102
Abstract
A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.
摘要
一种覆盖SOX9调控区域的定制比较基因组杂交微阵列。对数2比值散点图展示了各个数据点。蓝色框突出显示了3'断点区域放大后的拷贝数增加情况。
Zotero 插件