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

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

Abstract Background Deletions 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. Case presentation Here we describe a...

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Bibliographic Details
Main Authors: Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Molecular Cytogenetics
Subjects:
Xq21
Choroideremia
Deafness
Mental retardation
SNP arrays
Online Access:http://link.springer.com/article/10.1186/s13039-017-0324-6

Internet

http://link.springer.com/article/10.1186/s13039-017-0324-6

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