Mattei J F, Mattei M G, Lucas C, Giraud F
J Genet Hum. 1979 Mar;27(1):53-66.
The authors report ten cases of structural anomalies involving the Y chromosome: five cases of a dicentric Y chromosome, one ring Y chromosome, one case of a Y isochromosome containing the long arms, one deletion of the long arms (Yq-), one case of an abnormally long Y chromosome (Yq+) and one Y-autosome translocation. Analysis of clinical and chromosomal correlations, especially with respect to sexual differentiation, led to discussing the role of the Y chromosome.
作者报告了10例涉及Y染色体的结构异常病例:5例双着丝粒Y染色体、1例环状Y染色体、1例含长臂的Y等臂染色体、1例长臂缺失(Yq-)、1例Y染色体异常长(Yq+)和1例Y-常染色体易位。对临床和染色体相关性的分析,尤其是关于性分化方面的分析,引发了对Y染色体作用的讨论。