Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

Autor/inn/en	Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi
Titel	Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report
Quelle	In: Journal of Applied Research in Intellectual Disabilities, 30 (2017) 5, S.970-974 (5 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1360-2322
DOI	10.1111/jar.12272
Schlagwörter	Down Syndrome; Genetic Disorders; Intellectual Disability; Females; Adults; Comorbidity; Symptoms (Individual Disorders); Intervention; Case Studies; Foreign Countries; Colombia + Suchen Sie Ihr Suchwort? 'Downs Syndrome; Down''s Syndrome'; Down-Syndrom; Intellect; Disability; Disabilities; Verstand; Behinderung; Weibliches Geschlecht; Psychiatrische Symptomatik; Case study; Fallstudie; Case Study; Ausland; Kolumbien
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2020/1/01