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Previous Volume 340:703-707 March 4, 1999 Number 9 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Mosaicism is the phenomenon in which a fraction of, rather than all, germ-line and somatic cells contain a mutation or chromosomal abnormality. It occurs in all genetic disorders in which spontaneous mutations occur and has important clinical consequences for the assessment of patients with localized expression of multisystem disorders, for genetic counseling, and for molecular diagnostic testing.^1,2

Tuberous sclerosis is an autosomal dominant disorder characterized by the development of unusual tumor-like growths (hamartomas) in multiple organs.^3,4 Arguably the most important hamartomas are cerebral cortical tubers, which are regions of abnormal cortical architecture with distinctive large neuronal cells. Cortical tubers cause . . . [Full Text of this Article]

Case Report

Methods

Results

Discussion

Source Information

From the Division of Experimental Medicine and Medical Oncology, Brigham and Women's Hospital, Boston (J.K., D.J.K.); the Institute of Human Genetics, Polish Academy of Science, Poznan, Poland (J.K., D.N., R.S.); and the Department of Developmental Neurology, University of Medical Sciences, Poznan, Poland (J.W.-S.).

Address reprint requests to Dr. Kwiatkowski at the Division of Experimental Medicine, 221 Longwood Ave., Boston, MA 02115, or at kwiatkowski@calvin.harvard.edu.

References

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• Crino, P. B., Nathanson, K. L., Henske, E. P. (2006). The Tuberous Sclerosis Complex.. NEJM 355: 1345-1356 [Full Text]  
• Ichikawa, T., Wakisaka, A., Daido, S., Takao, S., Tamiya, T., Date, I., Koizumi, S., Niida, Y. (2005). A Case of Solitary Subependymal Giant Cell Astrocytoma: Two Somatic Hits of TSC2 in the Tumor, without Evidence of Somatic Mosaicism. J. Mol. Diagn. 7: 544-549 [Abstract] [Full Text]  
• Roberts, P S, Dabora, S, Thiele, E A, Franz, D N, Jozwiak, S, Kwiatkowski, D J (2004). Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. J. Med. Genet. 41: e69-e69 [Full Text]  
• Asato, M. R., Hardan, A. Y. (2004). Topical Review : Neuropsychiatric Problems in Tuberous Sclerosis Complex. J Child Neurol 19: 241-249 [Abstract]  
• Hendy, G. N., Minutti, C., Canaff, L., Pidasheva, S., Yang, B., Nouhi, Z., Zimmerman, D., Wei, C., Cole, D. E. C. (2003). Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the Calcium-Sensing Receptor Gene. J. Clin. Endocrinol. Metab. 88: 3674-3681 [Abstract] [Full Text]  
• STRIZHEVA, G. D., CARSILLO, T., KRUGER, W. D., SULLIVAN, E. J., RYU, J. H., HENSKE, E. P. (2001). The Spectrum of Mutations in TSC1 and TSC2 in Women with Tuberous Sclerosis and Lymphangiomyomatosis. Am. J. Respir. Crit. Care Med. 163: 253-258 [Abstract] [Full Text]  
• O'Callaghan, F. J, Osborne, J. P (2000). Recent advances: Advances in the understanding of tuberous sclerosis. Arch. Dis. Child. 83: 140-142 [Full Text]  
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• (1999). Mosaicism in Tuberous Sclerosis. Journal Watch Dermatology 1999: 5-5 [Full Text]