{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T12:51:31Z","timestamp":1726404691645},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"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":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Fragile X syndrome results from an expansion of the CGG trinucleotide repeat in the 5\u2032 untranslated region of the Fragile X Mental Retardation 1 (<jats:italic>FMR1<\/jats:italic>) gene. Expansion of a maternal premutation allele is the mechanism by which a full mutation allele arises; contraction of a maternal premutation allele is rare. Here we report on both an expansion and contraction of a maternal <jats:italic>FMR1<\/jats:italic> premutation allele in fraternal twins. The propositus was the product of a 29\u2010week gestation twin pregnancy and was referred for <jats:italic>FMR1<\/jats:italic> testing due to developmental delay. A <jats:italic>FMR1<\/jats:italic> full mutation with complete methylation was observed on Southern blot analysis. Evaluation of the maternal <jats:italic>FMR1<\/jats:italic> gene by PCR revealed a normal and premutation allele with CGG repeat numbers of 30 and 93, respectively. Subsequent <jats:italic>FMR1<\/jats:italic> testing on the twin sister of the propositus detected CGG repeat numbers of 30 and 54. The <jats:italic>FMR1<\/jats:italic> CGG repeat number of the reproductive partner was 30. The <jats:italic>FMR1<\/jats:italic> CGG repeat 30 allele in the twin sister was determined to be of paternal origin and the <jats:italic>FMR1<\/jats:italic> allele with a CGG repeat number of 54 was of maternal origin. This observation is particularly interesting not only because of the concomitant donation of a <jats:italic>FMR1<\/jats:italic> expanded and contracted premutation allele in a twin pregnancy but also because of the significant degree of contraction (39 repeats) of the maternal premutation allele. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36123","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T03:31:58Z","timestamp":1376623918000},"page":"2620-2625","source":"Crossref","is-referenced-by-count":5,"title":["Maternal <i>FMR1<\/i> premutation allele expansion and contraction in fraternal twins"],"prefix":"10.1002","volume":"161","author":[{"given":"Maria P.","family":"Alfaro","sequence":"first","affiliation":[{"name":"Department of Pathology Microbiology and Immunology Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University School of Medicine Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy L.","family":"Vnencak\u2010Jones","sequence":"additional","affiliation":[{"name":"Department of Pathology Microbiology and Immunology Nashville Tennessee"},{"name":"Department of Pediatrics Vanderbilt University School of Medicine Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<287::AID-AJMG11>3.0.CO;2-B"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-88"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.319"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2009.080174"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90283-5"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065703322783653"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","unstructured":"HagermanPJ.2012.Current Gaps in Understanding the Molecular Basis of FXTAS. 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