{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:14:53Z","timestamp":1760188493183},"reference-count":16,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":6247,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To date the concurrent presence of the fragile\u2010X and the Klinefelter syndromes in the same individual has been found at least 8 times either in the course of screening for the fra(X) condition in mentally retarded males or among the relatives of fra(X) propositi. Given the high frequency of both events in the general population and the heterogeneous approaches with which the above cases were ascertained, it has not been possible to determine unequivocally so far whether the finding is purely coincidental or the expression of some underlying biological relationship. To evaluate the issue, we have screened a large population of institutionalized mentally retarded males for microorchidism, and submitted to a full karyotype analysis and fra(X) testing the patients that were found to have marked bilateral microorchidism. Thus, in a total of 32 microorchidism patients identified among 1115 mentally retarded males, we found 6 to have a 47,XXY chromosome complement in all (or in most) of their cells, with one of them having also the fra(X) marker in 9% of the metaphases examined. In addition, another bearer of the fra(X) marker (but only in 4% of his metaphases) was found among 26 47, XXY mentally normal males ascertained throughout routine cytogenetic analysis of males with microorchidism referred to our genetic counseling unit during the last 10 years. In our laboratory the fra(X) marker has never been observed with such a frequency inatotal of several hundred normal XY males and XX females studied as control cases in the course of previously reported family and population studies. Taken at their face value, the present findings suggest that the incidence of the fra(X) marker among mentally retarded 47, XXY males (and possibly among 47, XXY individuals in general) is several fold greater than the incidence reported, for XY males and XX females. One of the most economical inter pretations of these observations is that heterozygosity for the fra(X) mutation may be a major cause of meiotic X chromosome non\u2010disjunction. If confirmed, this attractive hypothesis is likely to provide new clues for investigating the biology of the fra(X) mutation and its relationship \u2010 if any \u2010 with the mechanisms of normal and aberrant meiosis.<\/jats:p>","DOI":"10.1002\/ajmg.1320300108","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:16:11Z","timestamp":1118546171000},"page":"99-107","source":"Crossref","is-referenced-by-count":13,"title":["Fragile\u2010X mutation and Klinefelter syndrome: A reappraisal"],"prefix":"10.1002","volume":"30","author":[{"given":"Filippi","family":"G.","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pecile","family":"V.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rinaldi","family":"A.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siniscalco","family":"M.","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00607.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150115"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291535"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00303019"},{"key":"e_1_2_1_6_1","first-page":"251","article-title":"XY\/XXY mosaicism and fragile X syndrome","volume":"26","author":"Fryns JP","year":"1983","journal-title":"Ann Genet"},{"key":"e_1_2_1_7_1","first-page":"2","article-title":"Cytogenetic finding in moderate and severe mental retardation","volume":"313","author":"Fryns JP","year":"1984","journal-title":"Acta Paediatr Scand Suppl"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01086.x"},{"key":"e_1_2_1_9_1","first-page":"234","article-title":"FUdR induction of the X\u2010chromosome fragile site: Evidence for the mechanism of folic acid and thymidine inhibition","volume":"33","author":"Glover TW","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","unstructured":"JacobsPA BrownWT(1987): Personal communication."},{"key":"e_1_2_1_11_1","first-page":"234","article-title":"Marker\u2010X\u2010associated mental retardation. Observation of the X\u2010chromosome","volume":"23","author":"K\u00e4kh\u00f6nen M","year":"1983","journal-title":"Clin Genet"},{"key":"e_1_2_1_12_1","first-page":"146 A","article-title":"Maternal nondisjunction of fragile X chromosome resulting in Klinefelter syndrome","volume":"35","author":"O'Brien MM","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","article-title":"Screening for sites of meiotic recombination along X\u2010chromosome pairs derived from maternal non\u2010disjunction","author":"Purrello M","year":"1987","journal-title":"Hum Gene Mapping"},{"key":"e_1_2_1_14_1","first-page":"A100","article-title":"A family with a 47,XXY plus fragile X at Xq27. 3 due to paternal non\u2010disjunction","volume":"39","author":"Schnur RE","year":"1986","journal-title":"Am J Hum Genet Supplement"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274209"},{"key":"e_1_2_1_16_1","first-page":"573","article-title":"Induction of fragile sites in fibroblasts","volume":"38","author":"Sutherland GR","year":"1986","journal-title":"Hum Genet"},{"key":"e_1_2_1_17_1","first-page":"94 A","article-title":"The Xq27 fragile site and 47,XXY","volume":"32","author":"Wilmot PL","year":"1980","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320300108","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320300108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T11:41:38Z","timestamp":1693395698000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320300108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":16,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1002\/ajmg.1320300108"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320300108","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}