Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

@inproceedings{Szvetko2012DetectionOC,
  title={Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes},
  author={A Szvetko and Nicole Martin and Chris Joy and Andrea Hayward and Bob Watson and Andrew W. Cary and Stephen J. Withers},
  booktitle={Case reports in genetics},
  year={2012}
}
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… CONTINUE READING

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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 .
We describe a familial pattern of gonosomal - autosomal translocation between the X and 18 chromosomes , balanced and unbalanced forms , in male and female siblings .
We describe a familial pattern of gonosomal - autosomal translocation between the X and 18 chromosomes , balanced and unbalanced forms , in male and female siblings .
We describe a familial pattern of gonosomal - autosomal translocation between the X and 18 chromosomes , balanced and unbalanced forms , in male and female siblings .
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