Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be un...
| Huvudupphovsmän: | , , , , , , , , , , , , , , , , |
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| Materialtyp: | Journal article |
| Språk: | English |
| Publicerad: |
2008
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| _version_ | 1826289219266412544 |
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| author | Koolen, D Sistermans, E Nilessen, W Knight, S Regan, R Liu, Y Kooy, R Rooms, L Romano, C Fichera, M Schinzel, A Baumer, A Anderlid, B Schoumans, J van Kessel, A Nordenskjold, M de Vries, B |
| author_facet | Koolen, D Sistermans, E Nilessen, W Knight, S Regan, R Liu, Y Kooy, R Rooms, L Romano, C Fichera, M Schinzel, A Baumer, A Anderlid, B Schoumans, J van Kessel, A Nordenskjold, M de Vries, B |
| author_sort | Koolen, D |
| collection | OXFORD |
| description | Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be unique, hampering clinical interpretation and genetic counselling. We hypothesised that the genomic regions involved in these de novo submicroscopic aberrations would be candidates for recurrent copy-number changes in individuals with mental retardation. To test this hypothesis, we used multiplex ligation-dependent probe amplification (MLPA) to screen for copy number changes at eight genomic candidate regions in a European cohort of 710 individuals with idiopathic mental retardation. By doing so, we failed to detect additional submicroscopic rearrangements, indicating that the anomalies tested are non-recurrent in this cohort of patients. The break points flanking the candidate regions did not contain low copy repeats and/or sequence similarities, thus providing an explanation for its non-recurrent nature. On the basis of these data, we propose that the use of genome-wide microarrays is indicated when testing for copy-number changes in individuals with idiopathic mental retardation. |
| first_indexed | 2024-03-07T02:25:33Z |
| format | Journal article |
| id | oxford-uuid:a57388ea-e4dc-464c-a0fb-d6eede684a0d |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:25:33Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | oxford-uuid:a57388ea-e4dc-464c-a0fb-d6eede684a0d2022-03-27T02:40:41ZIdentification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a57388ea-e4dc-464c-a0fb-d6eede684a0dEnglishSymplectic Elements at Oxford2008Koolen, DSistermans, ENilessen, WKnight, SRegan, RLiu, YKooy, RRooms, LRomano, CFichera, MSchinzel, ABaumer, AAnderlid, BSchoumans, Jvan Kessel, ANordenskjold, Mde Vries, BGenome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be unique, hampering clinical interpretation and genetic counselling. We hypothesised that the genomic regions involved in these de novo submicroscopic aberrations would be candidates for recurrent copy-number changes in individuals with mental retardation. To test this hypothesis, we used multiplex ligation-dependent probe amplification (MLPA) to screen for copy number changes at eight genomic candidate regions in a European cohort of 710 individuals with idiopathic mental retardation. By doing so, we failed to detect additional submicroscopic rearrangements, indicating that the anomalies tested are non-recurrent in this cohort of patients. The break points flanking the candidate regions did not contain low copy repeats and/or sequence similarities, thus providing an explanation for its non-recurrent nature. On the basis of these data, we propose that the use of genome-wide microarrays is indicated when testing for copy-number changes in individuals with idiopathic mental retardation. |
| spellingShingle | Koolen, D Sistermans, E Nilessen, W Knight, S Regan, R Liu, Y Kooy, R Rooms, L Romano, C Fichera, M Schinzel, A Baumer, A Anderlid, B Schoumans, J van Kessel, A Nordenskjold, M de Vries, B Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
| title | Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
| title_full | Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
| title_fullStr | Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
| title_full_unstemmed | Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
| title_short | Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
| title_sort | identification of non recurrent submicroscopic genome imbalances the advantage of genome wide microarrays over targeted approaches |
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