{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:19:42Z","timestamp":1777803582777,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2014,5,22]],"date-time":"2014-05-22T00:00:00Z","timestamp":1400716800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Prader-Willi syndrome is a common and complex disorder affecting multiple systems. Its main manifestations are infantile hypotonia with a poor sucking reflex, a characteristic facial appearance, mild mental retardation, hypogonadism and early-onset obesity. Prader-Willi syndrome is due to the absence of paternally expressed imprinted genes at 15q11.2-13, and 3 main mechanisms are known to be involved in its pathogenesis: paternal microdeletions, maternal uniparental disomy events, and imprinting defects. DNA methylation analysis can detect almost all individuals with Prader-Willi syndrome but is unable to distinguish between the molecular classes of the disease. Thus, additional methods are necessary to identify the molecular classes. Here, we employed chromosomal microarray analysis\u2013single nucleotide polymorphism for diagnosis and detected a long-contiguous stretch of homozygosity on chromosome 15, which is highly predictive of maternal uniparental disomy on chromosome 15. Other methods, including fluorescence in situ hybridization, chromosomal microarray analysis\u2013comparative genomic hybridization, genotyping and family linkage analysis, were performed for further validation. In conclusion, our study highlights the use of long-contiguous stretch of homozygosity detection for the diagnosis of Prader-Willi syndrome.<\/jats:p>","DOI":"10.1177\/0883073814535492","type":"journal-article","created":{"date-parts":[[2014,5,23]],"date-time":"2014-05-23T23:02:04Z","timestamp":1400886124000},"page":"371-377","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Prader-Willi Syndrome With a Long-Contiguous Stretch of Homozygosity Not Covering the Critical Region"],"prefix":"10.1177","volume":"30","author":[{"given":"Xie","family":"Yingjun","sequence":"first","affiliation":[{"name":"Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhou","family":"Yi","sequence":"additional","affiliation":[{"name":"Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wu","family":"Jianzhu","sequence":"additional","affiliation":[{"name":"Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun","family":"Yunxia","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Yongzhen","sequence":"additional","affiliation":[{"name":"Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong","family":"Liangying","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Xiangyi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Qun","sequence":"additional","affiliation":[{"name":"Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,5,22]]},"reference":[{"key":"bibr1-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.165"},{"key":"bibr2-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/3.4.321"},{"key":"bibr3-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1038\/342281a0"},{"key":"bibr4-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198102053040604"},{"key":"bibr5-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92745-9"},{"key":"bibr6-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1086\/367926"},{"key":"bibr7-0883073814535492","first-page":"335","volume":"58","author":"Glenn CC","year":"1996","journal-title":"Am J Hum Genet"},{"key":"bibr8-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"bibr9-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(07)00008-9"},{"key":"bibr10-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00011"},{"key":"bibr11-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi493"},{"key":"bibr12-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq198"},{"key":"bibr13-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.08.007"},{"key":"bibr14-0883073814535492","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33939"},{"key":"bibr15-0883073814535492","doi-asserted-by":"crossref","unstructured":"Human Chromosomes: Principles & Techniques\n                      , 2nd edition, by Ram Verma, Arvind Babu, McGraw-Hill, Inc. 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