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Direct linkSaldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi – Journal of Applied Research in Intellectual Disabilities, 2017
Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…
Descriptors: Down Syndrome, Genetic Disorders, Intellectual Disability, Females
