{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T05:13:00Z","timestamp":1697087580201},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2009,9,1]],"date-time":"2009-09-01T00:00:00Z","timestamp":1251763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on multiple genomic aberrations in a patient with mental retardation. In addition, he had hypogonadism, elevated thyroid hormone levels, hearing loss, delayed speech development and mild dysmorphic features. First, we identified a mosaic karyotype, 45,X\/46,X,psu dic(Y). The pseudo\u2010dicentric Y chromosome has three short arm segments. Second, we found a germline mutation (Pro453Thr) of the thyroid hormone receptor beta (<jats:italic>THRB<\/jats:italic>) which is associated with resistance to thyroid hormone. Third, he was found to be a carrier of a heterozygous <jats:italic>ATP7B<\/jats:italic> mutation (c.2575\u2009+\u20095G\u2009&gt;\u2009C), the Wilson disease gene. Even though an array\u2010CGH (with a density of \u223c1\u2009Mb) did not reveal any further genomic gains or losses, we cannot exclude that all contributing factors have been identified. However, this case report shows that with increasing technological possibilities we can find more than one cause for developmental problems in a single patient. The identification of multiple causes in a single patient may complicate explaining the disorder and genetic counseling. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33004","type":"journal-article","created":{"date-parts":[[2009,9,1]],"date-time":"2009-09-01T20:17:27Z","timestamp":1251836247000},"page":"2231-2235","source":"Crossref","is-referenced-by-count":2,"title":["Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X\/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (<i>THRB<\/i>) mutation and heterozygosity for Wilson disease"],"prefix":"10.1002","volume":"149A","author":[{"given":"Frederik J.","family":"Hes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamlesh","family":"Madan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. 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