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The Cytogenetic Examination as a Tool for the Diagnosis of Chromosomal Disorders
Indexado
WoS WOS:000290913400009
Scopus SCOPUS_ID:79957584867
SciELO S0717-95022011000100009
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


Abstract



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.

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Disciplinas de Investigación



WOS
Anatomy & Morphology
Scopus
Anatomy
SciELO
Biological Sciences
Health Sciences

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



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

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Financiamiento



Fuente
Centro Universitário de Araraquara
Centro Universitario de Araraquara, UNIARA, Brazil

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Agradecimientos



Agradecimiento
Research supported by Centro Universitario de Araraquara, UNIARA, Brazil.

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