{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T10:39:26Z","timestamp":1772015966942,"version":"3.50.1"},"reference-count":60,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8007,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tandem repeats of chromosome material can arise as inverted or as direct duplications. Such duplications of the X chromosome are instructive regarding X\u2010linked genetic determinants of phenotype. We describe a 40\u2010year\u2010old woman with a direct duplication Xq13.3 to Xq27.2, short stature, gonadal dysgenesis, and secondary amenorrhea. Comparison of her phenotype with that of two other women with a direct duplication of part of Xq confirms the existence of statural determinants within the region X13 to Xq21, determinants of ovarian function within X22 to X27, and the X inactivation center within or proximal to band Xq13.3.<\/jats:p><jats:p>In humans, direct duplications are more frequent than inverted, but both forms are rare. The mean age of parents is normal in subjects with direct duplications, but is advanced in subjects with inverted duplications. An inverted duplication can arise from a three\u2010break rearrangement that includes a U\u2010type exchange; a similar origin (two breaks and a U\u2010type exchange) and a parental age association can be postulated for dicentric inverted duplications including dicentric isochromosome X.<\/jats:p>","DOI":"10.1002\/ajmg.1320150309","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:52:39Z","timestamp":1118515959000},"page":"441-450","source":"Crossref","is-referenced-by-count":39,"title":["The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm"],"prefix":"10.1002","volume":"15","author":[{"given":"Daniel L.","family":"Van Dyke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael 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