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Genetic counselling in cystic fibrosis

Results of a survey of 572 families

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Abstract

In a survey by questionnaire of 572 families with one or more children affected with cystic fibrosis 72% were found to have received genetic counselling. The mode of inheritance was correctly known by only 45% and either not known or incorrectly known by the others. About 75% expressed the wish for more information on the genetics of cystic fibrosis. The data indicate that genetic counselling in cystic fibrosis is not given or is ineffective in a high proportion of families. It is suggested that genetic counselling, backed up by a written resumé should be a regular part of the management of families with this disease. The genetic data are consistent with autosomal recessive inheritance at a single locus.

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Passarge, E., Eckerland, B. & Stephan, U. Genetic counselling in cystic fibrosis. Eur J Pediatr 143, 54–57 (1984). https://doi.org/10.1007/BF00442749

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  • DOI: https://doi.org/10.1007/BF00442749

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