{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T08:11:50Z","timestamp":1759565510421},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,3,8]],"date-time":"2006-03-08T00:00:00Z","timestamp":1141776000000},"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 B"],"published-print":{"date-parts":[[2006,4,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The prevalence of juvenile\u2010onset Huntington's disease (HD) is about ten times lower than adult HD. Here we report a Chinese HD family showing both intergeneration CAG expansion and contraction. The expansion resulted from a paternal transmission which leads to juvenile\u2010onset HD for a 17\u2010year\u2010old Chinese boy (III\u20105). More interestingly, a contraction was noticed in a maternal transmission (III\u20103), which changed the CAG repeat from an expanded, disease\u2010causing allele (48 repeats) to a normal or intermediate allele (34 repeats). Of note, the contraction resulted in a deletion of 14 CAG repeats, which is much larger than previously reported contractions. Our results are consistent with previous observations in Western Caucasians that juvenile\u2010onset HD is more likely inherited through the male germline. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30261","type":"journal-article","created":{"date-parts":[[2006,3,8]],"date-time":"2006-03-08T20:16:34Z","timestamp":1141848994000},"page":"242-244","source":"Crossref","is-referenced-by-count":9,"title":["Intergeneration CAG expansion and contraction in a Chinese HD family"],"prefix":"10.1002","volume":"141B","author":[{"given":"Yanping","family":"Tang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Podolsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"McIndoe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cong\u2010Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,3,27]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.chi.0000134494.65678.65"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1391"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneumeth.2004.10.006"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(85)90084-X"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.12.982"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.1022"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.2.392"},{"issue":"1","key":"e_1_2_3_9_1","first-page":"16","article-title":"Phenotypic characterization of individuals with 30\u201340 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36\u201339 repeats","volume":"59","author":"Rubinsztein DC","year":"1996","journal-title":"Am J Hum Genet"},{"issue":"6","key":"e_1_2_3_10_1","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. 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