作者
SM Gribble, E Prigmore, DC Burford, KM Porter, Bee Ling Ng, EJ Douglas, H Fiegler, P Carr, D Kalaitzopoulos, S Clegg, R Sandstrom, IK Temple, SA Youings, NS Thomas, NR Dennis, PA Jacobs, JA Crolla, NP Carter
发表日期
2005/1/1
期刊
Journal of medical genetics
卷号
42
期号
1
页码范围
8-16
出版商
BMJ Publishing Group Ltd
简介
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 was used to screen for genomic imbalance and array painting to map chromosome breakpoints rapidly. These two methods facilitate rapid analysis of translocation breakpoints and screening for cryptic chromosome imbalance. Breakpoints of rearrangements were further refined (to the level of spanning clones) using fluorescence in situ hybridisation where appropriate.
Results: Unexpected additional complexity or genome imbalance was found in six of 10 patients studied. The patients …
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