Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

• Main Authors: Wu Kuang-Lun (Author), Chen Yann-Jang (Author), Fang Jye-Siung (Author), Liao Hsiao-Mei (Author), Lee Kuei-Fang (Author), Chen Chia-Hsiang (Author)
• 格式: 图书
• 出版: BMC, 2011-05-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function. During chromosome analysis, we identified a reciprocal t...