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Combining linkage and dosage analyses for <jats:italic>SMN1<\/jats:italic>, we observed unaffected individuals who have two copies of <jats:italic>SMN1<\/jats:italic> on one chromosome 5 and zero copies of <jats:italic>SMN1<\/jats:italic> on the other chromosome 5. By dosage analysis alone, such individuals, as well as carriers of non\u2010deletion disease alleles, are indistinguishable from non\u2010carrier individuals. We report that approximately 7% of unaffected individuals without a family history of SMA have three or four copies of <jats:italic>SMN1<\/jats:italic>, implying a higher frequency of chromosomes with two copies of <jats:italic>SMN1<\/jats:italic> than previously reported. We present updated calculations for disease and non\u2010disease allele frequencies and we describe how these frequencies can be used for genetic risk assessment in carrier testing for SMA. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10425","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:34:39Z","timestamp":1033904079000},"page":"301-307","source":"Crossref","is-referenced-by-count":165,"title":["Genetic risk assessment in carrier testing for spinal muscular atrophy"],"prefix":"10.1002","volume":"110","author":[{"given":"Shuji","family":"Ogino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra G.B.","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Rennert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren J.","family":"Ewens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,6,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590121"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/513913"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195-335"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/513886"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V"},{"key":"e_1_2_7_7_1","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben JM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_8_1","first-page":"231","article-title":"Prenatal prediction of spinal muscular atrophy. 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