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随着细胞遗传学的进展,我国各级医院对携带者(Carriers)检出显著增多。携带者约占染色体病1/3左右,在临床有效高遗传效应产生不平衡子代成为咨询中重要课题。现将有关资料综述如下: 细胞遗传中携带者是指在原发性染色体结构重排畸变中身体内遗传物质总量并没有丢失而临床表形正常者。一、发病概况: 综合世界12篇文献对新生儿普查中染色体病发病率各异,仅就其中有代表性文献列表(见表1):
With the progress of cytogenetics, the detection of Carriers in hospitals at all levels in China increased significantly. Carriers account for about 1/3 of chromosome disease, resulting in clinically effective high genetic effects of unbalanced offspring become an important issue in the consultation. The relevant information is now summarized as follows: Cytogenetics in carriers refers to the primary chromosomal rearrangements in the body mass of genetic material is not lost and the clinical manifestations were normal. First, the incidence profile: comprehensive literature on the 12 newborns in the census of chromosomal disease incidence varied, only a representative of which the list of documents (see Table 1):