Title |
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells
|
---|---|
Published in |
Molecular Cytogenetics, May 2011
|
DOI | 10.1186/1755-8166-4-13 |
Pubmed ID | |
Authors |
Roberto Valli, Cristina Marletta, Barbara Pressato, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali, Emanuela Maserati |
Abstract |
The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicism the ability of a-CGH to reliably detect imbalances is not yet well established. This problem of sensitivity is even more relevant in acquired mosaicism in neoplastic diseases, where cells carrying acquired imbalances coexist with normal cells, in particular when the proportion of abnormal cells may be low.We constructed a synthetic mosaicism by mixing the DNA of three patients carrying altogether seven chromosome imbalances with normal sex-matched DNA. Dilutions were prepared mimicking 5%, 6%, 7%, 8%, 10% and 15% levels of mosaicism. Oligomer-based a-CGH (244 K whole-genome system) was applied on the patients' DNA and customized slides designed around the regions of imbalance were used for the synthetic mosaics. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Estonia | 1 | 2% |
France | 1 | 2% |
Italy | 1 | 2% |
Unknown | 54 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 14 | 25% |
Researcher | 11 | 19% |
Student > Master | 9 | 16% |
Student > Ph. D. Student | 5 | 9% |
Student > Postgraduate | 4 | 7% |
Other | 6 | 11% |
Unknown | 8 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 18 | 32% |
Agricultural and Biological Sciences | 15 | 26% |
Medicine and Dentistry | 10 | 18% |
Nursing and Health Professions | 3 | 5% |
Chemistry | 1 | 2% |
Other | 0 | 0% |
Unknown | 10 | 18% |