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| DOI | 10.4067/S0717-95022011000100009 | ||||||
| Año | 2011 | ||||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Clinically significant chromosomal abnormalities occur in about 1% of children born alive. The objective of this work was to offer the patients and the families in the community for the service of the Integrated Clinic of Uniara Health (Araraquara and region), the examination of cariotype (cytogenetic study) for confirmation or exclusion of the diagnostic suspicion of chromosomal abnormalities as well as information (genetic counseling) for the prevention of occurrence and/or recurrence of these anomalies. In the period of one year and four months these were carried out in the Integrated Clinic of Uniara Health and directed for the Laboratory of Cytogenetic Human of the same institution in 66 cytogenetic studies. In 44 patients (66.6%) the results were normal. In 22 (33.3%) examinations, alterations were found, meaning that the respective clinical pictures are decurrent of chromosomic alterations. The first cause within alterations noted was Down syndrome with a total of 15 examinations or 68.1%, the second cause of chromosomal anomaly was the Turner syndrome where the most important factor is 45, X, where 2 karyotypes of this type or 9.1% were found, syndromes as (Eduards syndrome, Patau syndrome, 3p-syndrome, 4p-syndrome and 6p-syndrome) diagnosed in our laboratory appeared less frequently corresponding to 22.7% of the studied anomalies. The work carried out constitutes a necessary diagnosis of the main chromosomal abnormalities through a low cost technique; it can be carried out easily and is reliable, making the cytogenetic examination available to the community and contributing significantly to the quality of life of patients.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| Cury Rodrigues, V | - |
Centro Universitário de Araraquara - Brasil
Centro Universitário de Araraquara de Saúde - Brasil |
|
| 1 | Miziara, R. C. | - |
Ctr Univ Fdn Educ Barretos - Brasil
Fundação Educacional de Barretos - Brasil Centro Universitário da Fundação Educacional de Barretos - Brasil Curso de Farmácia e Biomedicina - Brasil |
| 2 | Marques, S. B. S. | - |
Ctr Univ Fdn Educ Barretos - Brasil
Fundação Educacional de Barretos - Brasil Centro Universitário da Fundação Educacional de Barretos - Brasil Curso de Farmácia e Biomedicina - Brasil |
| 3 | Marques, J. H. S. | - |
Ctr Univ Fdn Educ Barretos - Brasil
Fundação Educacional de Barretos - Brasil Curso de Farmácia e Biomedicina - Brasil Centro Universitário da Fundação Educacional de Barretos - Brasil |
| 4 | Rezende, C. | - |
Ctr Univ Fdn Educ Barretos - Brasil
Ctr Univ Votuporanga - Brasil Fundação Educacional de Barretos - Brasil CENTRO UNIVERSITARIO DE VOTUPORANGA - Brasil Centro Universitário da Fundação Educacional de Barretos - Brasil Centro Universitário de Araraquara - Brasil |
| 5 | Aquino, R. | - |
Ctr Univ Araraquara Saude - Brasil
Centro Universitário de Araraquara - Brasil Centro Universitário de Araraquara de Saúde - Brasil |
| 6 | Rodrigues, V. Cury | - |
Ctr Univ Araraquara Saude - Brasil
Centro Universitário de Araraquara - Brasil |
| 7 | Azoubel, Reinaldo | Hombre |
Fac Med Sao Jose do Rio Preto - Brasil
Faculdade de Medicina de São José do Rio Preto - Brasil |