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染色体为49,XXXXY的男性在染色体异常中是罕见的一种,其发病率在新生男婴中估计大约为1/8 500。在最近几年里报道了近100例49,XXXXY综合征的病例,或为纯系或为嵌合体。一些病例用X连锁基因标记物例如红细胞抗原Xg~α分析其X染色体的亲本来源,然而,此标记物是显性的,无法确定的病例比例很高。就我们所知,文献中能确定性染色体来源的报道仅六例,他们全来自两条母源X染色体。
Men with chromosome 49 and XXXXY are rare in chromosomal abnormalities and their incidence is estimated to be about 1/8 500 in newborn boys. Nearly 100 cases of 49, XXXXY syndrome have been reported in recent years, either as pure lines or as chimeras. In some cases, X-linked genetic markers, such as the erythrocyte antigen Xg-α, were used to analyze the origin of the X chromosome. However, this marker is dominant and the number of uncertain cases is high. To the best of our knowledge, there are only six reports in the literature that identify the source of sex chromosomes, all from two maternal X chromosomes.