Armendares S, Buentello L, Salamanca F
Instituto de Investigaciones Antropológicas, Universidad Nacional Autónoma de México.
Rev Invest Clin. 1990 Jul-Sep;42(3):180-8.
The parents of 85 Down syndrome cases with regular 21 trisomy were studied cytogenetically. The lymphocyte chromosomes were stained with G-banding technique and 100 metaphases were analyzed in the father, the mother and the index case. Among the mothers two cases of mosaic 46, XX/47, XX, +21 (2.35%) were found and among the fathers no mosaic cases were found. Reciprocal and robertsonian translocations were not observed. In one of the fathers a pericentric inversion of the Y chromosome (0.61%) was found. The results are compared with those of similar studies and discussed in relation to genetic counseling and to the possible existence of an "interchromosomal effect" in man.
对85例具有典型21三体的唐氏综合征病例的父母进行了细胞遗传学研究。采用G显带技术对淋巴细胞染色体进行染色,并对父亲、母亲及先证者的100个中期分裂相进行分析。在母亲中发现2例46,XX/47,XX,+21嵌合体(2.35%),在父亲中未发现嵌合体病例。未观察到相互易位和罗伯逊易位。在1例父亲中发现Y染色体臂间倒位(0.61%)。将结果与类似研究的结果进行比较,并就遗传咨询及人类中可能存在的“染色体间效应”进行了讨论。