{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:25:54Z","timestamp":1760707554997},"reference-count":15,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4801,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 3 families where the presence and segregation at high frequency of a fragile Xq27.3 site is not associated with the mutations and methylation anomalies typically seen in the fragile X [Fra(X)] syndrome. In one family, a folate insensitive fragile site was associated with Robin sequence in the propositus. In a second family a fra(X) negative mother has two fra(X) positive sons (one mentally retarded and the other newborn). The third family presents very high expression of a folate sensitive site, unlinked to mental retardation, and was described previously by Voelckel et al. [1989]. The fragile sites in these or similar families recently described must be different from the one associated with the fra(X) syndrome. Their association with a clinical phenotype or with mental retardation is certainly not consistent, and may represent an ascertainment bias. However, the relatively high frequency with which they have been found among previously diagnosed fra(X) families suggests that, at least in some cases, the association with mental impairment may be significant. In two families reported up to now, a male with high expression of such variant fra(X) site failed to transmit it to his daughter, which may reflect an imprinting effect. Previously diagnosed families should be reinvestigated before direct DNA analysis is used for prenatal or carrier diagnosis of the fra(X) syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320430136","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:41:29Z","timestamp":1118551289000},"page":"224-231","source":"Crossref","is-referenced-by-count":11,"title":["Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR\u20101 CpG Island, and no clear phenotypic association"],"prefix":"10.1002","volume":"43","author":[{"given":"I.","family":"Oberl\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bou\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. F.","family":"Croquette","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Voelckel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. G.","family":"Mattei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)92652-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","unstructured":"DennisN CurtisG MacphersonJ JacobsP(1992) Two families with Xq27.3 fragility no detectable insert in the FMR\u20101 gene mild mental impairment and absence of the Martin\u2010Bell phenotype.Am J Med Genet this issue.","DOI":"10.1002\/ajmg.1320430137"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1675488"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410302"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.16.4355"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1097"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380234"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90125-I"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112123252401"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90001-U"},{"key":"e_1_2_1_12_1","first-page":"452","article-title":"Heritable fragile sites on human chromosomes, VIII: Preliminary population cytogenetic data on folic acid sensitive fragile sites","volume":"34","author":"Sutherland GR","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03498.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283690"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.252.5009.1179"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03113.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430136","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:18:33Z","timestamp":1693502313000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4,15]]},"references-count":15,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1992,4,15]]}},"alternative-id":["10.1002\/ajmg.1320430136"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430136","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4,15]]}}}