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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1993 Jun;52(6):1175–1181.

Negative expansion of the myotonic dystrophy unstable sequence.

D Abeliovich 1, I Lerer 1, I Pashut-Lavon 1, E Shmueli 1, A Raas-Rothschild 1, M Frydman 1
PMCID: PMC1682287  PMID: 8503449

Abstract

We have analyzed the unstable fragment of the myotonic dystrophy (DM) gene in a pregnancy at 50% risk for DM. The affected father in this family had a 3.0-kb expansion of the DM unstable region. The fetus inherited the mutated gene, but with an expansion of 0.5 kb. This case represented a counseling problem in light of the absence of data concerning "negative expansion." Analysis of the DM gene in 17 families with 72 affected individuals revealed four more cases of negative expansions, all of them in paternal transmissions. The possible significance of this finding is discussed.

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Selected References

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