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INTRODUCTION CLASSICAL features of the Laurence-Moon syndrome are mental retardation, retinitis pigmentosa, obesity, hypogenitalism, and polydactyly.1-3 The limits of the syndrome are poorly defined and are frequently extended to include individuals lacking one or more of the components listed. Complete and incomplete forms have been observed in different members of the same family.4-6 The disorder usually follows the pattern of an autosomal recessive, and evidence derived from sibship analyses and consanguinity is consistent with this mode of inheritance.4,7,8The present report describes the results of clinical, endocrinologic, and cytogenetic studies on five affected sibs, one of whom was found to have a sex-chromosome anomaly. MATERIALS AND METHODS All of the affected members of the family have been inmates of the Rosewood State Training School for at least 15 years. The nature of the disorder was recognized during an earlier study conducted by Smith et al.9 Subsequently, the family was ascertained

The relatively frequent occurrence of chromosomal abnormalities in spontaneous abortuses offers an opportunity to gain additional insight into the mechanisms and consequences of alterations in the karyotype. Studies on 41 successfully cultured specimens showed abnormalities belonging to each of the three major classes previously reported (autosomal trisomy, X-monosomy, and triploidy) as well as one case of mosaicism and one with a structural abnormality. Analyses of pooled data showed a higher mean maternal age and shorter mean period of gestation for trisomic abortuses than for abortuses associated with X-monosomy, triploidy, and normal chromosomes. No influence of maternal age could be demonstrated for X-monosomic or triploid abortions when these were compared with abortions having normal chromosomes. An association of triploidy with missed abortion was noted and may be significant.