Castillo S, Sanz P, Astete C, Daher V, Tobella L, Salazar S
Departamento de Medicina, Hospital Clínico J. J. Aguirre, Universidad de Chile.
Rev Chil Obstet Ginecol. 1991;56(1):38-42.
Cytogenetic study in couples with recurrent reproductive failure allows the detection of structural chromosome anomalies which don't have a phenotypic effect in carriers, but permit the explanation of the production of genetically unbalanced gametes. We present the investigation performed in 270 couples which demonstrated a chromosomal alteration in 9.2% of them. This allows genetic counselling in respect of the importance of the finding, recurrence risk and reproductive alternatives. In 8.6% we found some cellular lines with aneuploidies in sexual chromosomes, which don't represent a such concrete risk.
对反复出现生殖失败的夫妇进行细胞遗传学研究，有助于检测出染色体结构异常。这些异常在携带者中没有表型效应，但能解释遗传不平衡配子的产生。我们展示了对270对夫妇进行的调查，其中9.2%的夫妇存在染色体改变。这有助于就该发现的重要性、复发风险和生殖选择进行遗传咨询。在8.6%的夫妇中，我们发现一些细胞系存在性染色体非整倍体，但这并不代表具体的风险。
