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

Content Provider	PubMed Central
Author	Cobo, A. M. Poza, J. J. Martorell, L. Munain, A. López De Baiget, M. Emparanza, J. I.
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.
Starting Page	105
File Format	PDF
ISSN	14686244
e-ISSN	14686244
Journal	Journal of Medical Genetics
Issue Number	2
Volume Number	32
Language	English
Publisher Date	1995-02-01
Access Restriction	Open
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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