Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree.
Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree.
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家族 46,XX 男性与家族 46,XX 真正的雌雄同体在同一谱系中共存。
DOI：
10.1016/s0022-3476(87)80162-2
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
S. Greenfield
中科院分区：
文献类型：
--
作者：
N. Skordis;D. Stetka;M. Macgillivray;S. Greenfield
这里报告的是一个家族，其中46，xx个雄性和46，xx个真正的雌雄同体共存。被提议者是父亲的叔叔，具有46，xx的真正雌雄同体。他的一个兄弟生下了一个46岁的女儿，是真正的雌雄同体；第二个哥哥生了两个46，xx雄性。两个父亲都有正常的男性核型和表型。没有证据表明染色体镶嵌或任何额外的染色体异常。我们的结论是，遗传异常是最有可能通过父亲的遗传常染色体睾丸决定因素。这个家族提供了证据来支持46xx个真正的雌雄同体和46xx个男性代表相同遗传缺陷的不同表现的假设。
Reported here is a family with which 46,XX males and 46,XX true hermaphrodites coexist. The propositus was a paternal uncle with 46,XX true hermaphroditism. One of his brothers fathered a 46,XX daughter with true hermaphroditism; a second brother fathered two 46,XX males. Both fathers have normal male karyotypes and phenotypes. No evidence for chromosomal mosaicism or any additional chromosomal abnormalities was obtained. We conclude that inheritance of the abnormality is most likely via paternal transmission of an autosomal testis-determining factor. This family provides evidence to support the hypothesis that 46,XX true hermaphrodites and 46,XX males represent alternative manifestations of the same genetic defect.