Abnormal recombination between the X and Y chromosomes during meiosis, occurring outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y to the X chromosome, and consequently in abnormal sexual differentiation, such as the development of 46,XX males or true hermaphroditism. In this report we present clinical, cytogenetic, and molecular-cytogenetic data of a patient with ambiguous genitalia and true hermaphroditism, who had a unique mosaic karyotype, comprising three different cell lines: 46,XX(SRY+), 45,X(SRY+), and 45,X. The mosaic karyotype of our patient probably represents two different events: abnormal recombination between the X and Y chromosomes during paternal meiosis, and postzygotic loss of one of the X chromosomes. Replication studies demonstrated that in 80% of the XX cells, the SRY sequence was located on the active X chromosome. This finding suggests nonrandom X inactivation and, together with the presence of the SRY gene, explains the male phenotype of our patient. On the other hand, the presence of the 45,X cell line may have contributed to genital ambiguity. We conclude that fluorescence in situ hybridization (FISH) analysis with SRY probes is highly recommended and allows accurate diagnosis and optimal management in cases of 46,XX hermaphroditism and ambiguous genitalia.

译文

:减数分裂过程中X和Y染色体之间的异常重组发生在假常染色体区域之外,可能导致SRY基因从Y染色体移位到X染色体,从而导致异常的性别分化,例如46,XX例男性的发育或真正的雌雄同体。在本报告中,我们介绍了具有不明确生殖器和真正雌雄同体患者的临床,细胞遗传学和分子细胞遗传学数据,该患者具有独特的镶嵌核型,包括三种不同的细胞系:46,XX(SRY),45,X(SRY)和45,X。我们患者的镶嵌核型可能代表两个不同的事件:父系减数分裂期间X和Y染色体之间的异常重组,以及X染色体之一的合子后丢失。复制研究表明,在80%的XX细胞中,SRY序列位于活性X染色体上。这一发现表明,非随机性X灭活以及SRY基因的存在解释了我们患者的男性表型。另一方面,45,X细胞系的存在可能导致了生殖器歧义。我们得出的结论是,强烈建议使用SRY探针进行荧光原位杂交(FISH)分析,并在46,XX雌雄同体和生殖器歧义的情况下进行准确的诊断和最佳处理。

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