Ontology highlight
ABSTRACT:
SUBMITTER: Wang Q
PROVIDER: S-EPMC3567277 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Wang Qiuju Q Xue Yali Y Zhang Yujun Y Long Quan Q Asan Yang Fengtang F Turner Daniel J DJ Fitzgerald Tomas T Ng Bee Ling BL Zhao Yali Y Chen Yuan Y Liu Qingjie Q Yang Weiyan W Han Dongyi D Quail Michael A MA Swerdlow Harold H Burton John J Fahey Ciara C Ning Zemin Z Hurles Matthew E ME Carter Nigel P NP Yang Huanming H Tyler-Smith Chris C
American journal of human genetics 20130124 2
A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in th ...[more]