{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:28:41Z","timestamp":1792290521049,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,6,8]],"date-time":"2009-06-08T00:00:00Z","timestamp":1244419200000},"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":[[2009,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Huntington disease (HD) is a dominantly transmitted neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4p16.3. CAG repeat allele lengths are defined as <jats:italic>fully penetrant<\/jats:italic> at \u226540, <jats:italic>reduced penetrance<\/jats:italic> at 36\u201339, <jats:italic>high normal<\/jats:italic> at 27\u201335, and <jats:italic>normal<\/jats:italic> at \u226426. Fathers, but not mothers, with high normal alleles are at risk of transmitting potentially penetrant <jats:italic>HD<\/jats:italic> alleles (\u226536) to offspring. We estimated the conditional probability of an offspring inheriting an expanded penetrant allele given a father with a high normal allele by applying probability definitions and rules to estimates of HD incidence, paternal birth rate, frequency of de novo HD, and frequency of high normal alleles in the general population. The estimated probability that a male high normal allele carrier will have an offspring with an expanded penetrant allele ranges from 1\/6,241 to 1\/951. These estimates may be useful in genetic counseling for male high normal allele carriers. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32901","type":"journal-article","created":{"date-parts":[[2009,6,8]],"date-time":"2009-06-08T20:56:09Z","timestamp":1244494569000},"page":"1375-1381","source":"Crossref","is-referenced-by-count":45,"title":["Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27\u201335 CAG)"],"prefix":"10.1002","volume":"149A","author":[{"given":"Audrey E.","family":"Hendricks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne C.","family":"Latourelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn L.","family":"Lunetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. 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