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The 2\u2010copy <jats:italic>SMN1<\/jats:italic> allele may present in the families of SMA patients with homozygous deletion of <jats:italic>SMN1<\/jats:italic>, one of whose parents has two <jats:italic>SMN1<\/jats:italic> copies. In such families, individuals having two <jats:italic>SMN1<\/jats:italic> copies still have a chance to be \u201c2\u2009+\u20090\u201d carriers. In this study, the risks for the parents, fetuses and other siblings having two <jats:italic>SMN1<\/jats:italic> copies to be \u201c2\u2009+\u20090\u201d carriers were estimated based on Chinese meta\u2010analysis data and turned out to be rather striking. Our findings would help to optimize genetic counseling regarding spinal muscular atrophy.<\/jats:p>","DOI":"10.1007\/s10897-016-9980-7","type":"journal-article","created":{"date-parts":[[2016,7,16]],"date-time":"2016-07-16T00:35:54Z","timestamp":1468629354000},"page":"72-78","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Notable Carrier Risks for Individuals Having Two Copies of <i>SMN1<\/i> in Spinal Muscular Atrophy Families with 2\u2010copy Alleles: Estimation Based on Chinese Meta\u2010analysis Data"],"prefix":"10.1002","volume":"26","author":[{"given":"Xianda","family":"Wei","sequence":"first","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hu","family":"Tan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pu","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Tan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Libin","family":"Mei","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"},{"name":"Hunan Jiahui Genetics Hospital 110 Xiangya Road Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics Central South University 110 Xiangya Road Changsha Hunan 410078 China"},{"name":"Hunan Jiahui Genetics Hospital 110 Xiangya Road Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,16]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12222"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0147"},{"key":"e_1_2_12_5_1","first-page":"306","article-title":"Gene diagnosis for spinal muscular atrophy and its application study","volume":"26","author":"Cao D.","year":"2009","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_12_6_1","first-page":"410","article-title":"ection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing","volume":"30","author":"Cao Y.","year":"2013","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0487-z"},{"key":"e_1_2_12_8_1","unstructured":"*Chen W.(2004).Study on the gene diagnosis and the genotype\u2010phenotype correlation of spinal muscular atrophy. 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(Master's thesis). Retrieved from CNKI database."},{"key":"e_1_2_12_18_1","unstructured":"*He J.(2013).Molecular analysis of genes in 5q13 region in patients with spinal muscular atrophy. (Master's thesis). Retrieved from CNKI database."},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066969"},{"key":"e_1_2_12_20_1","unstructured":"*Hu X.(2010).The application of MLPA in gene diagnosis of single gene disorders DMD\/BMD and SMA. (Master'sthesis). 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