{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:33Z","timestamp":1764171753588,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,4,1]]},"abstract":"<jats:p>We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had \u03b1 thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt.<\/jats:p>\n               <jats:p>\u2003The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.<\/jats:p>","DOI":"10.1136\/jmg.37.4.287","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"287-291","source":"Crossref","is-referenced-by-count":29,"title":["An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito"],"prefix":"10.1136","volume":"37","author":[{"given":"Bert H J","family":"Eussen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Bartalini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lida","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Balestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmela","family":"Di Lucca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan O","family":"Van Hemel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Dauwerse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ans M W","family":"van den Ouweland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carrie","family":"Ris-Stalpers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senno","family":"Verhoef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dicky J J","family":"Halley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Fois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,4,1]]},"reference":[{"key":"2025100521451427000_37.4.287.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"2025100521451427000_37.4.287.2","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"2025100521451427000_37.4.287.3","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90137-6"},{"key":"2025100521451427000_37.4.287.4","doi-asserted-by":"publisher","DOI":"10.1086\/514888"},{"key":"2025100521451427000_37.4.287.5","first-page":"1112","article-title":"Clinical features and molecular analysis of the \u03b1-thalassemia\/mental retardation syndromes. Cases due to deletions involving chromosome band 16p13.3.","volume":"46","author":"Wilkie","year":"1990","journal-title":"Am J Hum Genet"},{"key":"2025100521451427000_37.4.287.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.3.177"},{"key":"2025100521451427000_37.4.287.7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"2025100521451427000_37.4.287.8","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90214-D"},{"key":"2025100521451427000_37.4.287.9","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.6.525"},{"key":"2025100521451427000_37.4.287.10","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(91)90196-2"},{"key":"2025100521451427000_37.4.287.11","first-page":"1233","article-title":"Differentiation in colorectal cancer.","volume":"13","author":"Belzen van","year":"1998","journal-title":"Histol Histopathol"},{"key":"2025100521451427000_37.4.287.12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/14.13.5171"},{"key":"2025100521451427000_37.4.287.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-86"},{"key":"2025100521451427000_37.4.287.14","first-page":"196","article-title":"Alpha satellite-like sequences at the centromere of #8.","volume":"39","author":"Donlon","year":"1986","journal-title":"Am J Hum Genet"},{"key":"2025100521451427000_37.4.287.15","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.9.2934"},{"key":"2025100521451427000_37.4.287.16","doi-asserted-by":"publisher","DOI":"10.1007\/BF02265294"},{"key":"2025100521451427000_37.4.287.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.10.642"},{"key":"2025100521451427000_37.4.287.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310433"},{"key":"2025100521451427000_37.4.287.19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200122"},{"key":"2025100521451427000_37.4.287.20","unstructured":"Mitelman F (1985) Catalog of chromosome aberrations in cancer. 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