Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypes
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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 bala... ...