{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T01:52:57Z","timestamp":1698025977982},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6553,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple endocrine neoplasia (MEN) type 2A and 2B are autosomal dominant syndromes in which medullary thyroid cancers are associated with adrenal pheochromocytomas. We have expanded our double\u2010blind studies of high\u2010resolution G\u2010banded chromosomes from lymphocytes to a total of 12 MEN\u20102A families, 7 MEN\u20102B (mucosal neuroma phenotype) families and 23 non\u2010MEN control subjects. Eighteen of 23 different control subjects were scored as having normal chromosomes 20, and 15 of 21 MEN\u20102A and 4 of 8 MEN\u20102B patients were scored as having an interstitial deletion: del(20) (p12.2p12.2). These findings suggest that the dominant mutation in many MEN\u20102A and MEN\u20102B families is a visible deletion within band 20p12.2. Combining the results of these double\u2010blind studies with those of the only other comparable reported double\u2010blind series provides a statistical probability of less than 1\/1000 that the association between MEN\u20102A and the deletion was observed by chance alone. However, the occasional discrepancies in classification using presently available techniques preclude the use of high resolution chromosome studies for the diagnosis of MEN\u20102.<\/jats:p>","DOI":"10.1002\/ajmg.1320270336","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:57:20Z","timestamp":1118545040000},"page":"739-748","source":"Crossref","is-referenced-by-count":7,"title":["Chromosome 20 deletion in multiple endocrine neoplasia type 2: Expanded double\u2010blind studies"],"prefix":"10.1002","volume":"27","author":[{"given":"V. Ramesh","family":"Babu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel L.","family":"Van Dyke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy L.","family":"Flejter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles E.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.8.2525"},{"key":"e_1_2_1_3_1","first-page":"A107","article-title":"Cytogenetic studies of multiple endocrine neoplasia type II (MEN\u2010II) syndrome","volume":"39","author":"Butler MG","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(87)90089-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/305779a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(83)90009-2"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","unstructured":"FarrerLA GoodfellowPJ WhiteBN HoldenJAJ KiddJR SimpsonNE KiddKK(1987):Linkage analysis of multiple endocrine neoplasia type 2A (MEN\u20102A) and three DNA markers on chromosome 20: Evidence against synteny. Cancer Genet Cytogenet (in press).","DOI":"10.1016\/0165-4608(87)90015-X"},{"key":"e_1_2_1_8_1","first-page":"890","article-title":"Linkage analysis of a DNA maker localized to 20p12 and multiple endocrine neoplasis type 2A","volume":"37","author":"Goodfellow PJ","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01863.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.246.18.2046"},{"key":"e_1_2_1_11_1","first-page":"704","article-title":"The two\u2010mutational\u2010event theory on medullary thyroid cancer","volume":"31","author":"Jackson CE","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","first-page":"A30","article-title":"Chromosome 20 deletion\u2010multiple endocrine neoplasia type 2 (MEN\u20102) update","volume":"37","author":"Jackson CE","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/316330a0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/309170a0"},{"key":"e_1_2_1_15_1","first-page":"273","article-title":"Genetic studies of multiple endocrine neopiasia type 2 syndromes: A workshop commentary","volume":"32","author":"Simpson NE","year":"1984","journal-title":"Henry Ford Hosp Med J"},{"key":"e_1_2_1_16_1","unstructured":"SimpsonNE KiddKK(1987):Where is the locus for multiple endocrine neoplasia type 2A? Henry Ford Hosp Med J (in press)."},{"key":"e_1_2_1_17_1","unstructured":"TateishiHfTakaiS NishishoI MikiT MotomuraK OkazakiM MiyauchiA IkeuchiT YamamotoK HattoriT KumaharaY MatsumotoH HonjoT MoriT(1987):Studies of multiple endocrine neoplasia type 2A syndrome: Linkage analysis and comparison of constitutional and tumor genotypes. Henry Ford Hosp Med J (in press)."},{"key":"e_1_2_1_18_1","first-page":"2134","article-title":"A cytogenetic study of familial medullary carcinoma of the thyroid","volume":"46","author":"Wurster\u2010Hill DH","year":"1986","journal-title":"Cancer Res"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285963"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.2.108"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270336","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270336","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:30:46Z","timestamp":1697895046000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,7]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,7]]}},"alternative-id":["10.1002\/ajmg.1320270336"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270336","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,7]]}}}