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oai:repisalud.isciii.es:20.500.12105/170692024-11-28T15:40:31Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16961col_20.500.12105_16976col_20.500.12105_16977

00925njm 22002777a 4500 dc Tejada, María-Isabel author Glover, Guillermo author Martínez, Francisco author Guitart, Miriam author Diego-Otero, Yolanda de author Fernández-Carvajal, Isabel author Ramos, Feliciano J author Hernández-Chico, Concepción author Pintado, Elizabet author Rosell, Jordi author Calvo, María-Teresa author Ayuso, Carmen author Ramos-Arroyo, María-Antonia author Maortua, Hiart author Milà, Montserrat author 2014-05-28 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 the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling. 10.1155/2014/195793 2314-6141 BioMed Research International http://hdl.handle.net/10668/1836 http://hdl.handle.net/20.500.13003/11381 24987673 http://hdl.handle.net/20.500.12105/17069 Alelos Síndrome del cromosoma X frágil Frecuencia génica Pruebas genéticas Sistema de registros España Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.