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首页> 外文期刊>Case Reports in Genetics >Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
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Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

机译：X染色体的检测; 18断点和Xq22.3; 18q23区域易位，导致可变的生育力表型

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摘要

We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype. The sister of the proband presented with oligomenorrhea with irregular menses and possesses an unbalanced form of the translocation 46, X, der(X), t(X;18)(q22.3;q23). The brother of the proband was investigated and was found to possess the balanced form of the same translocation, resulting in disrupted spermatogenesis. Maternal investigation revealed the progenitor karyotype 46, X, t(X;18)(q22.3;q23). Maternal inheritance and various genomic events contributed to the resultant genotypes. Primary infertility was initially diagnosed in all progeny; however, the male individual recently fathered twins. We briefly review the mechanisms associated with X;18 translocations and describe a pattern of inheritance, where breakpoints and translocation of the Xq22.3;18q23 regions have resulted in variable fertility.
机译：我们描述了男性和女性同胞中X和18条染色体（平衡和不平衡形式）之间的淋病性常染色体易位家族模式。咨询了性腺功能亢进性腺功能减退症的人。核型分析显示出平衡的46，X，t（X; 18）（q22.3; q23）基因型。先证者的姐姐表现为月经不调，月经不调，并具有不平衡形式的易位46，X，der（X），t（X; 18）（q22.3; q23）。对先证者的兄弟进行了研究，发现其具有相同易位的平衡形式，导致精子发生受到破坏。产妇调查显示祖细胞核型46，X，t（X; 18）（q22.3; q23）。母体遗传和各种基因组事件促成了合成基因型。最初在所有后代中诊断出原发性不孕;但是，这个男性个体最近生了双胞胎。我们简要回顾了与X; 18易位相关的机制，并描述了一种遗传模式，其中Xq22.3; 18q23区域的断点和易位导致了可变的生育力。

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