A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia deafness and mental retardation syndrome in a male patient

摘要

BackgroundDeletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported.