Molecular Testing for Fragile X : Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or w...

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Bibliographic Details
Published in:	BioMed research international Vol. 2014; no. 2014; pp. 1 - 8
Main Authors:	Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat, Tejada, María-Isabel, Ramos, Feliciano J., Fernández-Carvajal, Isabel, de Diego-Otero, Yolanda, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam
Format:	Journal Article
Language:	English
Published:	Cairo, Egypt Hindawi Puplishing Corporation 01-01-2014 Hindawi Publishing Corporation John Wiley & Sons, Inc Hindawi Limited
Subjects:	Adolescent Adult Alleles Child Child, Preschool Diagnosis Female Females Fragile X syndrome Fragile X Syndrome - epidemiology Fragile X Syndrome - genetics Gene Frequency Gene mutations Genetic Testing Health aspects Humans Identification and classification Infant Infant, Newborn Male Males Medical laboratories Methods Middle Aged Molecular diagnostic techniques Mutation Ovaries Registries Spain - epidemiology Spain Madrid Spain
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