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A family with primary infertility and two members with mental retardation and subtle facial dysmorphism is described. In the two retarded persons chromosomal rearrangements (partial monosomy of chromosome 5 and partial trisomy of chromosome 7) were detected. One member of the family had died with major congenital malformations. Her fibroblasts had been stored and her chromosomes showed the inverse pattern (partial trisomy of chromosome 5 and partial monosomy of chromosome 7). It appeared that in familial mental retardation with or without congenital malformations FISH-techniques should be used to detect submicroscopic chromosomal aberrations, which are not detectable by routine chromosome studies.

A systematic review was carried out to evaluate whether the use of N-acetylcysteine to improve lung function in patients with cystic fibrosis is supported by published evidence. Medline and the Cochrane Library were searched and the reference lists of all retrieved papers and of relevant chapters of three major textbooks were scanned. Data on lung function (forced expiratory volume in one second (FEV1)) were extracted from controlled clinical trials and pooled as weighted mean differences for analysis. Twenty-three studies, mostly uncontrolled clinical observations, were retrieved. Only three randomized controlled clinical trials on nebulized N-acetylcysteine in cystic fibrosis were found, not showing any beneficial effect on lung function. Six randomized controlled clinical trials on oral N-acetylcysteine in cystic fibrosis were found, with a total number of 181 patients. There was a tendency towards a beneficial effect on lung function of oral N-acetylcysteine therapy on FEV1 but it was small (2.3%, 95% CI from (-0.3 to 4.9% of predicted) and of doubtful clinical relevance. In all studies, follow-up was 3 months or shorter. In conclusion, at present there is no evidence supporting the use of N-acetylcysteine in cystic fibrosis, although a beneficial effect with long-term use of N-acetylcysteine in cystic fibrosis cannot be excluded.

Objective: To determine whether the use of acetylcysteine in children is supported by literature data and to determine how often and for what indications acetylcysteine is prescribed for children in general practice., Design: Systematic literature review and general practitioners audit., Setting: Academic Hospital Groningen, the Netherlands., Methods: A Medline search was performed and the references of the articles found were checked. All 720 general practitioners working in the three northern provinces of the Netherlands were mailed a questionnaire regarding their prescription of acetylcysteine for children., Results: Of the studies on acetylcysteine in children with pulmonary disorders (excluding cystic fibrosis) (n = 15) the majority (n = 12) were uncontrolled clinical observations. Three clinical trials were found, all of which showed considerable methodological shortcomings. The observed benefit of acetylcysteine therapy in these studies was of no clinical relevance. The questionnaire was filled out completely and returned by 70.3% of general practitioners. Almost one-third of the general practitioners (32.6%) prescribed acetylcysteine now and again for children with various pulmonary disorders (such as 'mucus that is difficult to bring up' (73.9%), asthmatic bronchitis (50.3). bronchitis (40.0%), excessive mucus production (40.0%) and dry cough (34.5%))., Conclusion: Acetylcysteine is being prescribed frequently for children with various pulmonary disorders by general practitioners whilst the use of this drug is not being supported by literature data.