Article
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.
BMC medical genetics - 20 May 2011
Liao Hsiao-Mei, Fang Jye-Siung, Chen Yann-Jang, Wu Kuang-Lun, Lee Kuei-Fang, Chen Chia-Hsiang
Abstract excerpt
BACKGROUND: 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 translocation between chromosomes 1p and 12q, t(1; 12)(p32.1; q21.3), co-segregating with microcephaly, language delay, and severe psychomotor retardation in a mother and...
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