{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T04:31:49Z","timestamp":1775277109112,"version":"3.50.1"},"reference-count":36,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T00:00:00Z","timestamp":1531699200000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Anales de Pediatr\u00eda"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.anpedi.2017.07.011","type":"journal-article","created":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T11:45:18Z","timestamp":1506599118000},"page":"3-11","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Array CGH como primera opci\u00f3n en el diagn\u00f3stico gen\u00e9tico: 1.000 casos y an\u00e1lisis de coste-beneficio"],"prefix":"10.1016","volume":"89","author":[{"given":"Neus","family":"Castells-Sarret","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna M.","family":"Cueto-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar","family":"Borregan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fermina","family":"L\u00f3pez-Grondona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Mir\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Plaja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.anpedi.2017.07.011_bib0185","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1212\/01.WNL.0000031431.81555.16","article-title":"Practice parameter: Evaluation of the child 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","volume":"60","author":"Shevell","year":"2003","journal-title":"Neurology."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0190","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1146\/annurev.publhealth.28.021406.144007","article-title":"The epidemiology of autism spectrum disorders","volume":"28","author":"Newschaffer","year":"2007","journal-title":"Annu Rev Public Health."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0195","doi-asserted-by":"crossref","first-page":"25","DOI":"10.3109\/14767058.2012.664943","article-title":"Congenital malformations","volume":"25","author":"Corsello","year":"2012","journal-title":"J Matern Neonatal Med."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0200","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1352\/0895-8017(2005)110[253:EOMRIC]2.0.CO;2","article-title":"Etiology of mental retardation in children referred to a tertiary care center: A prospective study","volume":"110","author":"Van Karnebeek","year":"2005","journal-title":"Am J Ment Retard."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0205","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0210","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1002\/ajmg.c.30152","article-title":"The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future","volume":"145C","author":"Shaffer","year":"2007","journal-title":"Am J Med Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0215","doi-asserted-by":"crossref","first-page":"171","DOI":"10.4103\/0971-6866.116118","article-title":"Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study","volume":"19","author":"Mundhofir","year":"2013","journal-title":"Indian J Hum Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0220","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.2005.036350","article-title":"Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities","volume":"43","author":"Ravnan","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.anpedi.2017.07.011_bib0225","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.ejmg.2006.10.002","article-title":"MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions","volume":"50","author":"Kirchhoff","year":"2007","journal-title":"Eur J Med Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0230","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1097\/GIM.0b013e318177015c","article-title":"Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray","volume":"10","author":"Baldwin","year":"2008","journal-title":"Genet Med."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0235","unstructured":"Huang S, Crolla J. Comparison for cytogenetics array platforms hardware and software for use in identifying copy number aberrations in constitutional disorders. 2010. National Genetics Reference Laboratory (Wessex). NGRLW_aCGH_1.0 [consultado Ene 2017]. Disponible en: http:\/\/www.ngrl.org.uk\/wessex\/downloads\/pdf\/NGRLW_aCGH_1[1].0.pdf"},{"key":"10.1016\/j.anpedi.2017.07.011_bib0240","first-page":"11","article-title":"Specific constitutional cytogenetic guidelines","volume":"30","author":"Hastings","year":"2012","journal-title":"E.C.A. Newsletter."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0245","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","article-title":"American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet Med."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0250","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1755-8166-4-12","article-title":"Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases","volume":"4","author":"Park","year":"2011","journal-title":"Mol Cytogenet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0255","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","article-title":"Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities","volume":"12","author":"Manning","year":"2010","journal-title":"Genet Med."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0260","series-title":"Consenso para la implementaci\u00f3n de los arrays (CGH y SNP-arrays) en la gen\u00e9tica cl\u00ednica","year":"2012"},{"key":"10.1016\/j.anpedi.2017.07.011_bib0265","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.gene.2013.02.043","article-title":"A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability","volume":"521","author":"Rodr\u00edguez-Revenga","year":"2013","journal-title":"Gene."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0270","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/sj.ejhg.5201896","article-title":"Guidelines for molecular karyotyping in constitutional genetic diagnosis","volume":"15","author":"Vermeesch","year":"2007","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0275","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pgen.1003365","article-title":"Rare copy number variants are a common cause of short stature","volume":"9","author":"Zahnleiter","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0280","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1159\/000439463","article-title":"A novel recurrent breakpoint responsible for rearrangements in the Williams-Beuren region","volume":"146","author":"Plaja","year":"2015","journal-title":"Cytogenet Genome Res."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0285","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints","volume":"49","author":"Warburton","year":"1991","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0290","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1373\/clinchem.2007.090290","article-title":"Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance","volume":"52","author":"Shen","year":"2007","journal-title":"Clinical Chemistry."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0295","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1002\/ajmg.a.31773","article-title":"Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features","volume":"143A","author":"Aradhya","year":"2007","journal-title":"Am J Med Genet A."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0300","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1755-8166-6-16","article-title":"Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals-results from four years\u2019 clinical application for over 8,700 patients","volume":"6","author":"Ahn","year":"2013","journal-title":"Mol Cytogenet. Molecular Cytogenetics;"},{"key":"10.1016\/j.anpedi.2017.07.011_bib0305","first-page":"1","article-title":"Phenotype profiling of patients with intellectual disability and copy number variations","volume":"8","author":"Rosell\u00f3","year":"2014","journal-title":"Eur J Paediatr Neurol."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0310","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1086\/507471","article-title":"Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation","volume":"79","author":"Friedman","year":"2006","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0315","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1002\/ajmg.a.33402","article-title":"Array CGH in molecular diagnosis of mental retardation \u2014A study of 150 finnish patients","volume":"152","author":"Siggberg","year":"2010","journal-title":"Am J Med Genet A."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0320","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1097\/GIM.0b013e318194ee8f","article-title":"Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects","volume":"11","author":"Sagoo","year":"2009","journal-title":"Genet Med."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0325","first-page":"1","article-title":"Array CGH as a first tier test for neonates with congenital heart disease","volume":"6","author":"Bachman","year":"2013","journal-title":"Cardiol Young"},{"key":"10.1016\/j.anpedi.2017.07.011_bib0330","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1159\/000331272","article-title":"Challenges of interpreting copy number variation in syndromic and non- syndromic congenital heart defects","volume":"35","author":"Breckpot","year":"2011","journal-title":"Cytogenet Genome Res."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0335","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1002\/humu.21585","article-title":"High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations","volume":"32","author":"Kariminejad","year":"2011","journal-title":"Hum Mutat."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0340","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1097\/GIM.0b013e318177015c","article-title":"Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray","volume":"10","author":"Baldwin","year":"2008","journal-title":"Genet Med."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0345","first-page":"e727","volume":"25","author":"Shen","year":"2010","journal-title":"Clinical genetic testing for patients with autism spectrum disorders Pediatrics"},{"key":"10.1016\/j.anpedi.2017.07.011_bib0350","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.ejmg.2011.12.011","article-title":"Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities","volume":"55","author":"Galizia","year":"2012","journal-title":"Eur J Med Genet."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0355","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ajmg.a.36886","article-title":"Copy number variations in children with brain malformations and refractory epilepsy","volume":"167","author":"Wincent","year":"2015","journal-title":"Am J Med Genet A."},{"key":"10.1016\/j.anpedi.2017.07.011_bib0360","doi-asserted-by":"crossref","first-page":"e1005226","DOI":"10.1371\/journal.pgen.1005226","article-title":"Burden analysis of rare microdeletion suggests a strong smpact of neurodevelopmental genes in genetic generalised epilepsies","volume":"11","author":"Lal","year":"2015","journal-title":"PLoS Genet."}],"container-title":["Anales de Pediatr\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403317303065?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403317303065?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T09:43:06Z","timestamp":1719481386000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1695403317303065"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["S1695403317303065"],"URL":"https:\/\/doi.org\/10.1016\/j.anpedi.2017.07.011","relation":{},"ISSN":["1695-4033"],"issn-type":[{"value":"1695-4033","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Array CGH como primera opci\u00f3n en el diagn\u00f3stico gen\u00e9tico: 1.000 casos y an\u00e1lisis de coste-beneficio","name":"articletitle","label":"Article Title"},{"value":"Anales de Pediatr\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.anpedi.2017.07.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Asociaci\u00f3n Espa\u00f1ola de Pediatr\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}