{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T18:56:07Z","timestamp":1721501767469},"reference-count":33,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>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%;<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:mi>P<\/mml:mi><mml:mo>&lt;<\/mml:mo><mml:mn>0.001<\/mml:mn><\/mml:mrow><\/mml:math>). Furthermore, in mothers with intermediate alleles (45\u201354 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55\u201359 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<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mrow><mml:mo>&lt;<\/mml:mo><\/mml:mrow><\/mml:math>59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling.<\/jats:p>","DOI":"10.1155\/2014\/195793","type":"journal-article","created":{"date-parts":[[2014,5,28]],"date-time":"2014-05-28T21:05:34Z","timestamp":1401311134000},"page":"1-8","source":"Crossref","is-referenced-by-count":12,"title":["Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families\u2014Performed in 12 Clinical Laboratories in Spain"],"prefix":"10.1155","volume":"2014","author":[{"given":"Mar\u00eda-Isabel","family":"Tejada","sequence":"first","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Molecular, Servicio de Gen\u00e9tica, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, 48903 Bizkaia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Glover","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica Molecular, Centro de Bioqu\u00edmica y Gen\u00e9tica Cl\u00ednica, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, El Palmar, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, Hospital Universitario La Fe, 46009 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Guitart","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica, UDIAT-Centre Diagn\u00f2stic, Corporaci\u00f3 Sanit\u00e0ria Parc Taul\u00ed, Institut Universitari UAB, Sabadell, 08208 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yolanda","family":"de Diego-Otero","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica de Salud Mental, Hospital Regional Universitario de M\u00e1laga, Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga (IBIMA), 29010 M\u00e1laga, 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabet","family":"Pintado","sequence":"additional","affiliation":[{"name":"Servicio de Biolog\u00eda Molecular, Hospital Virgen Macarena y Universidad de Sevilla, 41009 Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Rosell","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital Universitari Son Espases, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Palma de Mallorca, 07010 Illes Balears, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Teresa","family":"Calvo","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica M\u00e9dica, Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Servicio de Genetica, IIS-Hospital Universitario Fundaci\u00f3n 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