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本文对我院遗传病门诊的 5 10例咨询者进行了染色体检查分析 ,检出染色体异常者 19例 ,脆性X综合征 2例。为了更准确确定染色体的断点 ,对其中 11例结构异常者进行了高分辨染色体检查。并采用两种方法对其中 30例患者进行X染色体脆性位点检查。为了避免患儿出生 ,我们对上述异常染色体携带者或生过染色体数目异常患儿的孕妇共 10例 ,于孕 17 2 2周做了羊水细胞染色体检查。这项研究为了解本地区染色体病的发病情况 ,提供了有意义的资料。
In this paper, our hospital genetic disease clinic of 5 10 consultants conducted a chromosomal examination, chromosomal abnormalities were detected in 19 cases, 2 cases of fragile X syndrome. In order to determine the chromosomal breakpoints more accurately, high-resolution chromosomal examinations were performed on 11 of them. Two methods were used to detect X chromosome fragile sites in 30 of them. In order to avoid the birth of a child, we have 10 cases of the above abnormal chromosome carriers or the number of pregnant women with abnormalities of chromosomal abnormalities. The chromosome of amniotic fluid was examined at 1722 weeks of gestation. This study provides meaningful information for understanding the incidence of chromosomal diseases in the region.