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Lancet. 1991 Aug 3;338(8762):289-92.

Hereditary unstable DNA: a new explanation for some old genetic questions?

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Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.


Fragile X syndrome, associated with the fragile X chromosome, is the most common cause of familial mental retardation. The condition is characterised by a heritable DNA sequence that consists of an abnormal number of CCG repeats, and which is unstable in both mitosis and meiosis. We suggest that such heritable unstable DNA sequences could be present in other parts of the genome and that these might explain a number of genetic events that are not well understood in terms of classic genetic mechanisms. Such poorly explained observations include anticipation, incomplete penetrance, variable expression, and possibly imprinting, variegation, and multifactorial inheritance.

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