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[85例21号染色体三体综合征先证者父母的细胞遗传学研究]

[Cytogenetic study of the parents of 85 index cases with regular trisomy 21].

作者信息

Armendares S, Buentello L, Salamanca F

机构信息

Instituto de Investigaciones Antropológicas, Universidad Nacional Autónoma de México.

出版信息

Rev Invest Clin. 1990 Jul-Sep;42(3):180-8.

PMID:2148633
Abstract

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.

摘要

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。

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