Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
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....
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Main Authors: | Attila Szvetko, Nicole Martin, Chris Joy, Andrea Hayward, Bob Watson, Andrew Cary, Stephen Withers |
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Format: | Article |
Language: | English |
Published: |
Wiley
2012-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2012/681747 |
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