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We report a series of neonates and foetuses with trisomy 18 and abnormally low cholesterol levels and propose that down regulation of cholesterol synthesis in trisomy 18 is, in part, responsible for its phenotype. Cholesterol is a major structural lipid of cell membranes, as well as the precursor of steroid hormones and bile acids. Several human malformation syndromes have been identified biochemically as disorders of cholesterol biosynthesis. Trisomy 18, a multi-system malformation syndrome, has clinical features that overlap with those of disorders of cholesterol biosynthesis and dysregulation of this pathway may have a role in the developmental pathology. © 2005 Elsevier SAS. All rights reserved.




Lam, W. W. K., Kirk, J., Manning, N., Reardon, W., Kelley, R. I., & FitzPatrick, D. (2006). Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18. European Journal of Medical Genetics, 49(2), 195–199. https://doi.org/10.1016/j.ejmg.2005.05.011

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