In this issue of the Journal, Mefford et al.1 describe an associationbetween 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 ormental retardation, was reported earlier this year in the Journal.2These discoveries were made possible by a technologic revolutionin human cytogenetics: genomewide assessment of copy-numberalterations (deletions and duplications) by means of high-densityarray technologies, hereafter referred to as cytogenetic arrays.3,4,5
The resultant proliferation of new cytogenetic syndromes isreminiscent of an earlier era in human cytogenetics: "Duringthese . . . [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:
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(2009). Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J. Med. Genet.
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