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目的:对一家系中2例发育落后的小儿及其父母进行染色体核型分型,探讨小儿9号染色体臂间倒位的遗传效应。方法:通过对外周血淋巴细胞培养,制备染色体,G显带分析。详细询问病史,必要时做CT、脑电图等检查,以排除其他异常原因。结果:患儿的染色体核型均为46,XX,inv(9)×2,其父母的染色体核型分别为46,XX,inv(9)及46,XY,inv(9)。结论:小儿的inv(9)有一定的遗传效应,应引起临床的重视。
Objective: To investigate the genetic effect of inbreeding on chromosome 9 in pediatric pedigrees and their parents in two underdeveloped children and their parents. Methods: Chromosomes were prepared by peripheral blood lymphocyte culture, G - banding analysis. Asked in detail the history, if necessary, CT, EEG and other tests to rule out other anomalies. Results: The chromosomal karyotypes of children were all 46, XX, inv (9) × 2, and the parents’ chromosome karyotypes were 46, XX, inv (9), 46, XY and inv (9), respectively. Conclusion: The inv (9) in children has certain genetic effect, which should cause clinical attention.