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The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

¹ Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, CMM L8:02 Karolinska Hospital, SE-17176 Stockholm, Sweden
² Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, MI 49503, USA

Correspondence to:
Jacqueline Schoumans;
Jacqueline.schoumans@cmm.ki.se] Received 3 September 2003
Revised version received 16 September 2003
25 September 2003

Keywords: CGH array; chromosome aberrations; mental retardation; micro-array; molecular cytogenetics

Abbreviations: BAC, bacterial artificial chromosome; CGH, comparative genomic hybridisation; FISH, fluorescence in situ hybridisation; MR, mental retardation; PAC, P1 derived artificial chromosome

The first 150 words of the full text of this article appear below.

Gene dose alterations can cause mental retardation (MR), congenital malformations and miscarriages. Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade.¹ A complete set of subtelomeric FISH probes was presented in 1996 and updated in 2000.² Consequently, screening for subtelomeric abnormalities has become a diagnostic test that is offered by diagnostic laboratories, and a number of studies reporting new subtelomeric rearrangements have been published.^3–16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. To cover the whole genome, genome wide screening for chromosomal imbalances using microsatellite markers has been reported,^17,18 as well as metaphase CGH.^19–22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. The . . . [Full text of this article]

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