{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T13:40:04Z","timestamp":1698500404934},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3759,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a familial paracentric inversion (X)(q21.2 q24) in a family with 2 male and 2 female carriers. The males were mentally retarded and the females were normal with normal ovarian function. It is suggested that a recessive mental retardation (MR) gene was disrupted by one of the inversion breakpoints, although an X\u2010linked MR gene which by chance is linked to the inv(X) could not be ruled out. In the female carriers of the paracentric inversion a random X\u2010inactivation was demonstrated. The normal ovarian function is an exception to the concept of \u201ccritical region\u201d at Xq13\u2010q26. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550322","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:55:13Z","timestamp":1118512513000},"page":"359-362","source":"Crossref","is-referenced-by-count":10,"title":["Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females"],"prefix":"10.1002","volume":"55","author":[{"given":"Dvorah","family":"Abeliovich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Dagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chava","family":"Kimchi\u2010Sarfaty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel","family":"Zlotogora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1229","article-title":"Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgenreceptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"38","article-title":"Microdeletions in patients with gusher associated X\u2010linked mixed deafness (DFN3)","volume":"50","author":"Bach I","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","first-page":"91","volume-title":"Human Cytogenetics, Constitutional Analysis. 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