BACKGROUND: Proximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup(17)(p11.2p11.2) syndrome. While 80-90% or more of the rearrangements resulting in each disorder are recurrent, several non-recurrent deletions or duplications of varying sizes within proximal 17p also have been characterised using fluorescence in situ hybridisation (FISH). METHODS: A BAC/PAC array based comparative genomic hybridisation (array-CGH) method was tested for its ability to detect these genomic dosage differences and map breakpoints in 25 patients with recurrent and non-recurrent rearrangements. RESULTS: Array-CGH detected the dosage imbalances resulting from either deletion or duplication in all the samples examined. The array-CGH approach, in combination with a dependent statistical inference method, mapped 45/46 (97.8%) of the analysed breakpoints to within one overlapping BAC/PAC clone, compared with determinations done independently by FISH. Several clones within the array that contained large LCRs did not have an adverse effect on the interpretation of the array-CGH data. CONCLUSIONS: Array-CGH is an accurate and sensitive method for detecting genomic dosage differences and identifying rearrangement breakpoints, even in LCR-rich regions of the genome.
BACKGROUND: Proximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup(17)(p11.2p11.2) syndrome. While 80-90% or more of the rearrangements resulting in each disorder are recurrent, several non-recurrent deletions or duplications of varying sizes within proximal 17p also have been characterised using fluorescence in situ hybridisation (FISH). METHODS: A BAC/PAC array based comparative genomic hybridisation (array-CGH) method was tested for its ability to detect these genomic dosage differences and map breakpoints in 25 patients with recurrent and non-recurrent rearrangements. RESULTS: Array-CGH detected the dosage imbalances resulting from either deletion or duplication in all the samples examined. The array-CGH approach, in combination with a dependent statistical inference method, mapped 45/46 (97.8%) of the analysed breakpoints to within one overlapping BAC/PAC clone, compared with determinations done independently by FISH. Several clones within the array that contained large LCRs did not have an adverse effect on the interpretation of the array-CGH data. CONCLUSIONS: Array-CGH is an accurate and sensitive method for detecting genomic dosage differences and identifying rearrangement breakpoints, even in LCR-rich regions of the genome.
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Authors: Philip M Boone; Carlos A Bacino; Chad A Shaw; Patricia A Eng; Patricia M Hixson; Amber N Pursley; Sung-Hae L Kang; Yaping Yang; Joanna Wiszniewska; Beata A Nowakowska; Daniela del Gaudio; Zhilian Xia; Gayle Simpson-Patel; LaDonna L Immken; James B Gibson; Anne C-H Tsai; Jennifer A Bowers; Tyler E Reimschisel; Christian P Schaaf; Lorraine Potocki; Fernando Scaglia; Tomasz Gambin; Maciej Sykulski; Magdalena Bartnik; Katarzyna Derwinska; Barbara Wisniowiecka-Kowalnik; Seema R Lalani; Frank J Probst; Weimin Bi; Arthur L Beaudet; Ankita Patel; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz Journal: Hum Mutat Date: 2010-11-02 Impact factor: 4.878
Authors: Zhishuo Ou; Małgorzata Jarmuz; Steven P Sparagana; Jacques Michaud; Jean-Claude Décarie; Svetlana A Yatsenko; Beata Nowakowska; Patti Furman; Chad A Shaw; Lisa G Shaffer; James R Lupski; A Craig Chinault; Sau W Cheung; Paweł Stankiewicz Journal: Hum Genet Date: 2006-06-22 Impact factor: 4.132
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