{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T19:59:22Z","timestamp":1785873562470,"version":"3.56.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T00:00:00Z","timestamp":1527120000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81500972"],"award-info":[{"award-number":["81500972"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670812"],"award-info":[{"award-number":["81670812"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["15YF1409600"],"award-info":[{"award-number":["15YF1409600"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003395","name":"Shanghai Municipal Education Commission","doi-asserted-by":"publisher","award":["15CG14"],"award-info":[{"award-number":["15CG14"]}],"id":[{"id":"10.13039\/501100003395","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008233","name":"Shanghai Jiao Tong University School of Medicine","doi-asserted-by":"publisher","award":["15ZH3003"],"award-info":[{"award-number":["15ZH3003"]}],"id":[{"id":"10.13039\/501100008233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007279","name":"Shanghai Municipal Health Bureau","doi-asserted-by":"publisher","award":["20134005"],"award-info":[{"award-number":["20134005"]}],"id":[{"id":"10.13039\/501100007279","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Precision Medical Research of National Key Research and Development Program","award":["2016YFC0905100"],"award-info":[{"award-number":["2016YFC0905100"]}]},{"name":"Precision Medical Research of National Key Research and Development Program","award":["2016YFC0905100"],"award-info":[{"award-number":["2016YFC0905100"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12920-018-0368-4","type":"journal-article","created":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T07:32:21Z","timestamp":1527147141000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions"],"prefix":"10.1186","volume":"11","author":[{"given":"Yanjie","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanming","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuwen","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingmin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiwen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianshu","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingming","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongnian","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomin","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefan","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0910","authenticated-orcid":false,"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,5,24]]},"reference":[{"issue":"2","key":"368_CR1","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1016\/j.ridd.2010.12.018","volume":"32","author":"PK Maulik","year":"2011","unstructured":"Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil. 2011;32(2):419\u201336.","journal-title":"Res Dev Disabil"},{"issue":"6","key":"368_CR2","doi-asserted-by":"publisher","first-page":"2304","DOI":"10.1542\/peds.2006-1006","volume":"117","author":"JB Moeschler","year":"2006","unstructured":"Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117(6):2304\u201316.","journal-title":"Pediatrics"},{"issue":"5","key":"368_CR3","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","volume":"86","author":"DT Miller","year":"2010","unstructured":"Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749\u201364.","journal-title":"Am J Hum Genet"},{"key":"368_CR4","unstructured":"[Expert consensus on the clinical application of chromosomal microarray analysis in pediatric genetic diseases]. Zhonghua er ke za zhi = Chinese J Pediatr. 2016;54(6):410\u20133."},{"issue":"3","key":"368_CR5","doi-asserted-by":"publisher","first-page":"e903","DOI":"10.1542\/peds.2014-1839","volume":"134","author":"JB Moeschler","year":"2014","unstructured":"Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903\u201318.","journal-title":"Pediatrics"},{"issue":"Pt 2","key":"368_CR6","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1046\/j.1365-2788.2003.00447.x","volume":"47","author":"M Arvio","year":"2003","unstructured":"Arvio M, Sillanpaa M. Prevalence, aetiology and comorbidity of severe and profound intellectual disability in Finland. J Intellect Disabil Res. 2003;47(Pt 2):108\u201312.","journal-title":"J Intellect Disabil Res"},{"issue":"7","key":"368_CR7","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","volume":"13","author":"HM Kearney","year":"2011","unstructured":"Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680\u20135.","journal-title":"Genet Med"},{"issue":"10","key":"368_CR8","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1038\/ng.3638","volume":"48","author":"DM Ruderfer","year":"2016","unstructured":"Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, Daly MJ, MacArthur DG, Fromer M, Purcell SM. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016;48(10):1107\u201311.","journal-title":"Nat Genet"},{"issue":"1","key":"368_CR9","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/nrg3999","volume":"17","author":"LE Vissers","year":"2016","unstructured":"Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016;17(1):9\u201318.","journal-title":"Nat Rev Genet"},{"key":"368_CR10","doi-asserted-by":"crossref","unstructured":"Vissers LE, van Nimwegen KJ, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017;","DOI":"10.1038\/gim.2017.1"},{"issue":"6","key":"368_CR11","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1016\/j.ejpn.2013.04.010","volume":"17","author":"A Battaglia","year":"2013","unstructured":"Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol. 2013;17(6):589\u201399.","journal-title":"Eur J Paediatr Neurol"},{"issue":"1","key":"368_CR12","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1111\/j.1399-0004.2012.01850.x","volume":"83","author":"M Shoukier","year":"2013","unstructured":"Shoukier M, Klein N, Auber B, Wickert J, Schroder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, et al. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? Clin Genet. 2013;83(1):53\u201365.","journal-title":"Clin Genet"},{"issue":"4","key":"368_CR13","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1203\/PDR.0b013e31818095d0","volume":"64","author":"AA Richards","year":"2008","unstructured":"Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS, Zinn AR, Garg V. Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatr Res. 2008;64(4):358\u201363.","journal-title":"Pediatr Res"},{"issue":"6","key":"368_CR14","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1038\/pr.2013.41","volume":"73","author":"A Syrmou","year":"2013","unstructured":"Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E. Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease. Pediatr Res. 2013;73(6):772\u20136.","journal-title":"Pediatr Res"},{"key":"368_CR15","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1186\/1471-2164-15-1127","volume":"15","author":"J Geng","year":"2014","unstructured":"Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, et al. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014;15:1127.","journal-title":"BMC Genomics"},{"issue":"5","key":"368_CR16","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1038\/ejhg.2013.203","volume":"22","author":"HA van Duyvenvoorde","year":"2014","unstructured":"van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, et al. Copy number variants in patients with short stature. Eur J Hum Genet. 2014;22(5):602\u20139.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"368_CR17","doi-asserted-by":"publisher","first-page":"e1003365","DOI":"10.1371\/journal.pgen.1003365","volume":"9","author":"D Zahnleiter","year":"2013","unstructured":"Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, et al. Rare copy number variants are a common cause of short stature. PLoS Genet. 2013;9(3):e1003365.","journal-title":"PLoS Genet"},{"issue":"9","key":"368_CR18","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.nrl.2016.03.006","volume":"32","author":"V Caballero Perez","year":"2017","unstructured":"Caballero Perez V, Lopez Pison FJ, Miramar Gallart MD, Gonzalez Alvarez A, Garcia Jimenez MC, Garcia Iniguez JP, Orden Rueda C, Gil Hernandez I, Fuertes Rodrigo C, Fernando Martinez R, et al. Phenotype in patients with intellectual disability and pathological results in array CGH. Neurologia. 2017;32(9):568\u201378.","journal-title":"Neurologia"},{"issue":"1","key":"368_CR19","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1097\/PAT.0000000000000043","volume":"46","author":"J Nicholl","year":"2014","unstructured":"Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, et al. Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. Pathology. 2014;46(1):41\u20135.","journal-title":"Pathology"},{"issue":"4","key":"368_CR20","doi-asserted-by":"publisher","first-page":"e727","DOI":"10.1542\/peds.2009-1684","volume":"125","author":"Y Shen","year":"2010","unstructured":"Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4):e727\u201335.","journal-title":"Pediatrics"},{"issue":"6","key":"368_CR21","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1111\/cge.12740","volume":"89","author":"V Oikonomakis","year":"2016","unstructured":"Oikonomakis V, Kosma K, Mitrakos A, Sofocleous C, Pervanidou P, Syrmou A, Pampanos A, Psoni S, Fryssira H, Kanavakis E, et al. Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. Clin Genet. 2016;89(6):708\u201318.","journal-title":"Clin Genet"},{"issue":"9","key":"368_CR22","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1038\/ng.909","volume":"43","author":"GM Cooper","year":"2011","unstructured":"Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838\u201346.","journal-title":"Nat Genet"},{"issue":"1","key":"368_CR23","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.jped.2014.05.007","volume":"91","author":"L Emy Dorfman","year":"2015","unstructured":"Emy Dorfman L, Leite JC, Giugliani R, Riegel M. Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances. J Pediatr. 2015;91(1):59\u201367.","journal-title":"J Pediatr"},{"issue":"10","key":"368_CR24","doi-asserted-by":"publisher","first-page":"1052","DOI":"10.1038\/gim.2015.216","volume":"18","author":"Y Cao","year":"2016","unstructured":"Cao Y, Li Z, Rosenfeld JA, Pursley AN, Patel A, Huang J, Wang H, Chen M, Sun X, Leung TY, et al. Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med. 2016;18(10):1052\u20135.","journal-title":"Genet Med"},{"issue":"17","key":"368_CR25","doi-asserted-by":"publisher","first-page":"1629","DOI":"10.1212\/WNL.0b013e3182345896","volume":"77","author":"DJ Michelson","year":"2011","unstructured":"Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: genetic and metabolic testing on children with global developmental delay: report of the quality standards Subcommittee of the American Academy of neurology and the practice Committee of the Child Neurology Society. Neurology. 2011;77(17):1629\u201335.","journal-title":"Neurology"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-018-0368-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12920-018-0368-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-018-0368-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T19:14:43Z","timestamp":1558638883000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-018-0368-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,24]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["368"],"URL":"https:\/\/doi.org\/10.1186\/s12920-018-0368-4","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,24]]},"assertion":[{"value":"25 July 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 May 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was reviewed and approved by the ethical committee of Xinhua hospital and Shanghai Children\u2019s Medical Center, China. Informed consent was obtained from the patients, and for those patients under 18\u00a0years old, consent was obtained from the parents on their behalf.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"49"}}