Cytogenetic Technology — Genotype and Phenotype  

Oleh:

Ledbetter, David H.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 359 no. 16 (Oct. 2008), page 1728.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2008.05 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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 . . .

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