title: Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.
abstract: 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 a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation.
  
  
  RESULTS
  The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members.
  
  
  CONCLUSIONS
  In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS.
authors.affiliation: Research Group in congenital & perinatal malformations and Dysmorphology (MACOS), University of Valle, Cali, Valle, Colombia.|Departments of Morphology and Obstetrics & Gynecology, University of Valle, Cali, Valle, Colombia.
authors.forename: Wilmar
authors.initials: W
authors.lastname: Saldarriaga
authors.affiliation: Research Group in congenital & perinatal malformations and Dysmorphology (MACOS), University of Valle, Cali, Valle, Colombia.
authors.forename: Fabian Andres
authors.initials: FA
authors.lastname: Ruiz
authors.affiliation: Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Sacramento, CA, USA.|MIND Institute, University of California, Davis, Medical Center, Sacramento, CA, USA.
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.affiliation: Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA.|Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA.
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
mesh_terms: D000328:Adult; D003105:Colombia; D015897:Comorbidity; D004314:Down Syndrome / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005600:Fragile X Syndrome / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D006801:Humans
keywords: down syndrome; fragile X syndrome; prevalence; sertraline