Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim wa...

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Bibliographic Details
Main Authors: Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas
Format: Article
Language:English
Published: Ordem dos Médicos 2021-08-01
Series:Acta Médica Portuguesa
Subjects:
chromosome abnormalities
cytogenetic analysis
fragile x mental retardation protein
premature ovarian insufficiency
Online Access:https://actamedicaportuguesa.com/revista/index.php/amp/article/view/13490

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https://actamedicaportuguesa.com/revista/index.php/amp/article/view/13490

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