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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Detalhes bibliográficos
Main Authors: Szvetko, Attila, Martin, Nicole, Joy, Chris, Hayward, Andrea, Watson, Bob, Cary, Andrew, Withers, Stephen
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3447224/
https://ncbi.nlm.nih.gov/pubmed/23074692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/681747
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