Ostrer H, Wright G, Clayton M, Skordis N, MacGillivray M H
Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610.
J Pediatr. 1989 Jun;114(6):977-82. doi: 10.1016/s0022-3476(89)80441-x.
To determine the mechanism for the coexistence of XX chromosomal maleness and true hermaphroditism in the same family, we performed cytogenetic and molecular genetic analyses, using DNA probes from the short arm of the Y chromosome. These studies excluded the following possible mechanisms: (1) an inherited, mitotically unstable Y chromosome that results in chromosomal mosaicism, (2) an inherited Y-to-X or Y-autosomal translocation, (3) recurrent Y-to-X translocation, and (4) incomplete inactivation of the X chromosomal homolog for the testicular determining factor. We conclude that the disorder of sexual differentiation observed in this family can be best explained by a dominant autosomal gene with variable expressivity.
为确定同一家庭中XX染色体男性化与真两性畸形共存的机制，我们使用来自Y染色体短臂的DNA探针进行了细胞遗传学和分子遗传学分析。这些研究排除了以下可能机制：（1）遗传性、有丝分裂不稳定的Y染色体导致染色体嵌合体；（2）遗传性Y染色体与X染色体或常染色体的易位；（3）复发性Y染色体与X染色体的易位；（4）睾丸决定因子的X染色体同源物不完全失活。我们得出结论，该家族中观察到的性分化障碍最好用具有可变表达性的显性常染色体基因来解释。
