Small cell lung carcinoma in a patient with Sotos syndrome: Are genes at 3p21 involved in both conditions?

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Abstract

A 22 year old female with Sotos syndrome and a small cell lung carcinoma is described. This case is of interest not only because of the somatic growth pattern, atypical of Sotos syndrome, but also because of the association with a rare tumour. Of significance is the possible role of mutations at 3p21 in the aetiology of Sotos syndrome and tumour development.

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Cole, T. R. P., Hughes, H. E., Jeffreys, M. J., Williams, G. T., & Arnold, M. M. (1992). Small cell lung carcinoma in a patient with Sotos syndrome: Are genes at 3p21 involved in both conditions? Journal of Medical Genetics, 29(5), 338–341. https://doi.org/10.1136/jmg.29.5.338

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