Kövary P M, Niermann H
Hautarzt. 1981 Feb;32(2):63-6.
Hypotheses concerning phenotypic males with a female karyotype (46,XX males) are discussed. This peculiar chromosomal anomaly may be explained either by a mutation of autosomal sex determining genes or by a translocation of Y chromosomal genes to an X chromosome or an autosome. Recent studies concerning the H-Y antigen indicate that mosaicism with cell lines containing a Y chromosome may not be made responsible for phenotypic males with a 46,XX karyotype.
本文讨论了关于具有女性核型（46,XX男性）的表型男性的假说。这种特殊的染色体异常现象，要么可以通过常染色体性别决定基因的突变来解释，要么可以通过Y染色体基因易位到X染色体或常染色体来解释。最近关于H-Y抗原的研究表明，含有Y染色体的细胞系的嵌合体可能与具有46,XX核型的表型男性无关。
