{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T18:32:29Z","timestamp":1714847549267},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,4,23]],"date-time":"2008-04-23T00:00:00Z","timestamp":1208908800000},"content-version":"vor","delay-in-days":9701,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1981,10]]},"abstract":"<jats:p>In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the \u03b1<jats:sub>1<\/jats:sub>\u2010antitrypsin\/\u03b1<jats:sub>1<\/jats:sub>\u2010protease inhibitor (PI) types in these DS children revealed a significantly higher value of non\u2010M PI variants (P &lt; 0.05). In their fathers the non\u2010M PI variants were not increased, not even in those in whom nondisjunction had taken place. A clearly significantly higher value (<jats:italic>P<\/jats:italic>&lt;&lt; 0.001) of non\u2010M PI variants was found in their mothers, particularly when only the MS and MZ types which are recognised as deficiency variants were considered. Most striking, however, is the almost 5\u2010fold increased frequency of MS and MZ types found in mothers where the nondisjunction had occurred during the first meiotic division. This would suggest that PI deficiency interferes with some process leading to non\u2010disjunction. If these findings are confirmed, application of Bayes' theorem enables us to estimate the risk for MZ and MS heterozygous women to have a DS child: this would be 3\u2010 to 4\u2010fold higher than for MM homozygous women. This would be of interest for genetic counselling and enhance the benefits of prenatal diagnosis programmes.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1981.tb01037.x","type":"journal-article","created":{"date-parts":[[2010,7,18]],"date-time":"2010-07-18T23:37:24Z","timestamp":1279496244000},"page":"304-309","source":"Crossref","is-referenced-by-count":9,"title":["Parental \u03b1 1\u2010antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome"],"prefix":"10.1111","volume":"20","author":[{"given":"P. H.","family":"Jongbloet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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Genet."},{"key":"e_1_2_1_12_1","first-page":"377","article-title":"The effect of trypsin on the early development of the sea urchin egg","volume":"15","author":"Hagstr\u00f8m B. E.","year":"1963","journal-title":"Arkiv Zool."},{"key":"e_1_2_1_13_1","article-title":"Nondisjunction in de geslachts\u2010cellen bij ouders van patienten met het syndroom van Down","author":"Hamers A. J.","year":"1981","journal-title":"Ned. T. 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