A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family

Brachydactyly is a hereditary disease characterized by malformation of finger(s)/toe(s). A group of German scientists reported that duplication on Chromosome 20 is associated with the condition. We have studied this disorder in a Chinese family. We found that a 4.6kb duplication, smaller than the German group reported, on�Chromosome 20, appeared in all the brachydactyly patients, [...]

Source: http://blogs.bmj.com/jmg/2011/02/26/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family/

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