Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil
Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this study was to identify and characterize chromosomal...
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| Format: | Article |
| Language: | English |
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Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS)
2014-11-01
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| Series: | Clinical and Biomedical Research |
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| Online Access: | http://seer.ufrgs.br/hcpa/article/view/50295 |
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| author | Mariluce Riegel Nathália Barcellos Rafaella Mergener Karen Regina Silva de Souza Júlio César Loguercio Leite Rejane Gus Lilia Maria Azevedo Moreira Roberto Giugliani |
| author_facet | Mariluce Riegel Nathália Barcellos Rafaella Mergener Karen Regina Silva de Souza Júlio César Loguercio Leite Rejane Gus Lilia Maria Azevedo Moreira Roberto Giugliani |
| author_sort | Mariluce Riegel |
| collection | DOAJ |
| description | Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this study was to identify and characterize chromosomal microdeletions associated with malformation syndromes and intellectual disability.
Methods: We retrospectively evaluated a consecutive series of samples from a cohort of 598 subjects with clinical symptoms of a microdeletion syndrome, including the deletion of chromosomes 4p16.3, 5p15.2, 5q35, 7q11.23, 8q24.12, 15q11.2, 16p13.3, 17p13.3, 17p11.2,2, and 22q11.2, as investigated by fluorescence in situ hybridization (FISH). Array-based comparative genomic hybridization (array-CGH) was performed on 25 samples with microdeletions.
Results: A total of 598 samples were evaluated from patients whose clinical phenotypes were most indicative of 22q11.2 deletion syndrome (29.10%), Prader-Willi syndrome (23.41%), Angelman syndrome (16.89%), and Williams-Beuren syndrome (14.72%). In 142 of the samples (23.75%), a chromosomal imbalance associated with phenotypic abnormalities was found. The deletion of 7q11.23 was the most frequent (8.03%), followed by del22q11.2 (5.68%) and del15q11.2 (5%).
Conclusion: Our study reinforces the idea that the effort to improve the capacity to perform molecular cytogenetic investigations associated with a qualified clinical evaluation is crucial for the detection and precise characterization of submicroscopic chromosome deletions, bringing benefits to patients, relatives, and genetic counselors. It also contributes to the continuing education of cytogeneticists and to the knowledge of chromosomal rearrangements associated with genomic disorders. |
| first_indexed | 2024-12-23T13:36:10Z |
| format | Article |
| id | doaj.art-9722cfa8ac53483281a24f66cac910e3 |
| institution | Directory Open Access Journal |
| issn | 0101-5575 2357-9730 |
| language | English |
| last_indexed | 2024-12-23T13:36:10Z |
| publishDate | 2014-11-01 |
| publisher | Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS) |
| record_format | Article |
| series | Clinical and Biomedical Research |
| spelling | doaj.art-9722cfa8ac53483281a24f66cac910e32022-12-21T17:45:01ZengHospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS)Clinical and Biomedical Research0101-55752357-97302014-11-0134426062Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern BrazilMariluce Riegel0Nathália Barcellos1Rafaella Mergener2Karen Regina Silva de Souza3Júlio César Loguercio Leite4Rejane Gus5Lilia Maria Azevedo Moreira6Roberto Giugliani7Serviço de Genética Médica, Hospital de Clínicas, Porto Alegre, RS, Brazil Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RSPrograma de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, RSPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RSPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RSServiço de Genética Médica, Hospital de Clínicas, Porto Alegre, RSServiço de Genética Médica, Hospital de Clínicas, Porto Alegre, RSLaboratório de Genética Humana e Mutagênese, Instituto de Biologia, Universidade Federal da Bahia, Salvador, BAServiço de Genética Médica, Hospital de Clínicas, Porto Alegre, RS, Brazil Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil Programa de Pós-Graduação em Medicina: Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, BrazilIntroduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this study was to identify and characterize chromosomal microdeletions associated with malformation syndromes and intellectual disability. Methods: We retrospectively evaluated a consecutive series of samples from a cohort of 598 subjects with clinical symptoms of a microdeletion syndrome, including the deletion of chromosomes 4p16.3, 5p15.2, 5q35, 7q11.23, 8q24.12, 15q11.2, 16p13.3, 17p13.3, 17p11.2,2, and 22q11.2, as investigated by fluorescence in situ hybridization (FISH). Array-based comparative genomic hybridization (array-CGH) was performed on 25 samples with microdeletions. Results: A total of 598 samples were evaluated from patients whose clinical phenotypes were most indicative of 22q11.2 deletion syndrome (29.10%), Prader-Willi syndrome (23.41%), Angelman syndrome (16.89%), and Williams-Beuren syndrome (14.72%). In 142 of the samples (23.75%), a chromosomal imbalance associated with phenotypic abnormalities was found. The deletion of 7q11.23 was the most frequent (8.03%), followed by del22q11.2 (5.68%) and del15q11.2 (5%). Conclusion: Our study reinforces the idea that the effort to improve the capacity to perform molecular cytogenetic investigations associated with a qualified clinical evaluation is crucial for the detection and precise characterization of submicroscopic chromosome deletions, bringing benefits to patients, relatives, and genetic counselors. It also contributes to the continuing education of cytogeneticists and to the knowledge of chromosomal rearrangements associated with genomic disorders.http://seer.ufrgs.br/hcpa/article/view/50295Molecular cytogeneticsmicrodeletion syndrome, FISH, array-CGH |
| spellingShingle | Mariluce Riegel Nathália Barcellos Rafaella Mergener Karen Regina Silva de Souza Júlio César Loguercio Leite Rejane Gus Lilia Maria Azevedo Moreira Roberto Giugliani Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil Clinical and Biomedical Research Molecular cytogenetics microdeletion syndrome, FISH, array-CGH |
| title | Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil |
| title_full | Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil |
| title_fullStr | Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil |
| title_full_unstemmed | Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil |
| title_short | Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil |
| title_sort | molecular cytogenetic evaluation of chromosomal microdeletions the experience of a public hospital in southern brazil |
| topic | Molecular cytogenetics microdeletion syndrome, FISH, array-CGH |
| url | http://seer.ufrgs.br/hcpa/article/view/50295 |
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