Inequities in diagnosis of Fragile X syndrome in Colombia.

Saldarriaga-Gil, Wilmar; Cabal-Herrera, Ana Maria; Fandiño-Losada, Andrés; Vásquez, Andrés; Hagerman, Randi; Tassone, Flora

Saldarriaga-Gil, Wilmar; Cabal-Herrera, Ana Maria; Fandiño-Losada, Andrés; Vásquez, Andrés; Hagerman, Randi; Tassone, Flora.

Affiliation

Saldarriaga-Gil W; Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Cabal-Herrera AM; Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Fandiño-Losada A; Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Vásquez A; Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Hagerman R; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, USA.
Tassone F; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, USA.

J Appl Res Intellect Disabil ; 34(3): 830-839, 2021 May.

Article in En | MEDLINE | ID: mdl-33538083

Subject(s)

Autism Spectrum Disorder; Fragile X Syndrome; Intellectual Disability; Alleles; Colombia/epidemiology; Fragile X Mental Retardation Protein/genetics; Fragile X Syndrome/diagnosis; Fragile X Syndrome/epidemiology; Fragile X Syndrome/genetics; Humans; Intellectual Disability/diagnosis; Intellectual Disability/epidemiology; Intellectual Disability/genetics

Key words

FMR1 full mutation; FMR1 premutation; age at the time of diagnosis; financial coverage of molecular tests; frequencies of FM and PM alleles; type of health insurance

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autism Spectrum Disorder / Fragile X Syndrome / Intellectual Disability Type of study: Diagnostic_studies / Guideline Limits: Humans Country/Region as subject: America do sul / Colombia Language: En Journal: J Appl Res Intellect Disabil Year: 2021 Type: Article Affiliation country: Colombia

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