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. 1995 Feb;32(2):105–108. doi: 10.1136/jmg.32.2.105

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

A M Cobo 1, J J Poza 1, L Martorell 1, A López de Munain 1, J I Emparanza 1, M Baiget 1
PMCID: PMC1050229  PMID: 7760317

Abstract

A molecular analysis of the maternal and child CTG repeat size and intergenerational amplification was performed in order to estimate the risk of having a child with congenital myotonic dystrophy (CMD). In a study of 124 affected mother-child pairs (42 mother-CMD and 82 mother-non-CMD) the mean maternal CTG allele in CMD cases was three times higher (700 repeats) than in non-CMD cases (236 repeats). When the maternal allele was in the 50-300 repeats range, 90% of children were non-CMD. In contrast, when the maternal allele was greater than 300 repeats, 59% inherited the congenital form. Furthermore, the risk of having a CMD child is also related to the intergenerational amplification, which was significantly greater in the mother-CMD pairs than in the mother-non-CMD pairs. Although the risk of giving birth to a CMD child always exists for affected mothers, our data show that such a risk is considerably higher if the maternal allele is greater than 300 repeats.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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