科研之友
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摘要
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. Las anormalidades cromos車micas, cl赤nicamente significativas, se presentan en aproximadamente 1% de los ni os nacidos vivos. Este trabajo tiene el objetivo de ofrecer a los pacientes y / o a sus familiares el servicio de la Cl赤nica Integrada de la Salud de Uniara (Araraquara y Regi車n), el examen de cariotipo (estudio citogen谷tico) para la confirmaci車n o la exclusi車n de sospecha de anomal赤as cromosomales diagnosticadas, as赤 como otorgar informaci車n (consejo gen谷tico) para la prevenci車n de las posibles anomal赤as y / o la repetici車n de 谷stas. En un a o y cuatro meses fueron realizados 66 estudios de citogen谷tica en la Cl赤nica Integrada de Uniara, dirigida por el Laboratorio de Citogen谷tica Humana de la misma instituci車n. En 44 pacientes (66,6%) los resultados fueron normales. En 22 (33,3%) de los ex芍menes, se encontraron alteraciones, compatibles con alteraciones cromos車micas. La primera causa de anomal赤as cromos車mica fue el s赤
