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Previous Volume 359:1728-1730 October 16, 2008 Number 16 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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In this issue of the Journal, Mefford et al.¹ describe an association between a microdeletion at 1q21.1 and a diverse range of impairments: mental retardation associated with microcephaly, cardiac abnormalities, or cataracts. A microdeletion at 16p11.2, causing autism or mental retardation, was reported earlier this year in the Journal.² These discoveries were made possible by a technologic revolution in human cytogenetics: genomewide assessment of copy-number alterations (deletions and duplications) by means of high-density array technologies, hereafter referred to as cytogenetic arrays.^3,4,5

The resultant proliferation of new cytogenetic syndromes is reminiscent of an earlier era in human cytogenetics: "During these . . . [Full Text of this Article]

Source Information

This article (10.1056/NEJMe0806570) was published at www.nejm.org on September 10, 2008.

From the Department of Human Genetics, Emory University, Atlanta.

This article has been cited by other articles:

• van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Perez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A (2009). Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J. Med. Genet. 46: 511-523 [Abstract] [Full Text]  
• Tan, T Y, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, E P, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, J B, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G (2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J. Med. Genet. 46: 480-489 [Abstract] [Full Text]