X-chromosome rearrangements are usually associated with distinct X inactivation patterns, which can influence in patient?s phenotype. To better understand the mechanisms involved in cell selection and the clinical consequences ...

Background: X-chromosome inactivation (XCI) is an epigenetic mechanism that aims at dosage compensation between males (XY) and females (XX) regarding the expression of X-linked genes. Even though the choice of which X ...

Mulheres com translocacoes X-autossomo equilibradas constituem um grupo heterogeneo de pacientes cuja determinacao precisa do ponto de quebra e considerada uma das ferramentas mais importantes para o reconhecimento de genes ...

Introduction: A growing biological research field is the cellular senescence, a mechanism that has been associated, under certain circumstances, with malignant transformation. Given the high incidence of ovarian cancer and ...

Precise breakpoint mapping of balanced chromosomal rearrangements is crucial to identify disease genes. In this study, we evaluated 11 female patients with balanced reciprocal translocations associated with phenotypic ...