Article
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
BioMed research international - 1 Jan 2014
Tejada María-Isabel, Glover Guillermo, Martínez Francisco, Guitart Miriam, de Diego-Otero Yolanda, Fernández-Carvajal Isabel, Ramos Feliciano J, Hernández-Chico Concepción, Pintado Elizabet, Rosell Jordi, Calvo María-Teresa, Ayuso Carmen, Ramos-Arroyo María-Antonia, Maortua Hiart, Milà Montserrat
Abstract excerpt
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 were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with...
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