{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:50:16Z","timestamp":1693504216162},"reference-count":16,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5240,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a large kindred with 10 mentally retarded, fra(X) positive males and 2 normal transmitting males. Clinical findings include variable degrees of facial anomalies, macroorchidism, behavioral characteristics, and cognitive deficiencies. The affected grandsons were fra(X) positive while their obligate carrier mothers and transmitting grandfathers were fra(X) negative. DNA\u2010restriction fragment length polymorphism (RFLP) linkage study was undertaken to find informative markers to identify heterozygotes or hemizygotes. The problems encountered in genetic counselling, by the absence of established criteria for diagnosis, are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320380222","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:09:12Z","timestamp":1118549352000},"page":"275-282","source":"Crossref","is-referenced-by-count":5,"title":["Martin\u2013Bell syndrome segregating in a large kindred with normal transmitting males: Clinical, cytogenetic, and linkage study"],"prefix":"10.1002","volume":"38","author":[{"given":"Virginia P.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy J.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia A.","family":"Skorey","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":"crossref","unstructured":"CarpenterNJ(1990) DNA linkage analysis in 26 families with fragile X syndrome.Am J Med Genet: this issue.","DOI":"10.1002\/ajmg.1320380229"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)92652-0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80034-6"},{"key":"e_1_2_1_5_1","first-page":"38","volume-title":"DSM\u2010III\u2010R","year":"1987"},{"key":"e_1_2_1_6_1","series-title":"Curr Probl Pediatr","first-page":"471","volume-title":"Fragile X Syndrome","author":"Hagerman RJ","year":"1987"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070408"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1093\/genetics\/117.3.587","article-title":"Proposed mechanism of inheritance and expression of the human fragile X syndrome of mental retardation","volume":"177","author":"Laird CD","year":"1987","journal-title":"Genetics"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300171"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300111"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291644"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1984.tb00830.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(08)62336-0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.4.286"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273654"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283690"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300110"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T12:53:22Z","timestamp":1693400002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2]]},"references-count":16,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[1991,2]]}},"alternative-id":["10.1002\/ajmg.1320380222"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380222","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,2]]}}}