Article
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
Journal of medical genetics - 1 Jan 2005
Gribble S M, Prigmore E, Burford D C, Porter K M, Ng Bee Ling, Douglas E J, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple I K, Youings S A, Thomas N S, Dennis N R, Jacobs P A, Crolla J A, Carter N P
Abstract excerpt
OBJECTIVE: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances. METHODS: DNA microarrays were used with a resolution of 1 Mb for the detailed genome-wide analysis of the patients. Array CGH...
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