{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T22:26:41Z","timestamp":1787956001576,"version":"build-2784847793"},"reference-count":39,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1016\/j.ejmg.2021.104164","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T12:12:14Z","timestamp":1612872734000},"page":"104164","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["\u2018More than a box of puzzles\u2019: Understanding the parental experience of having a child with a rare genetic condition\""],"prefix":"10.1016","volume":"64","author":[{"given":"Jacqueline","family":"Fitzgerald","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0800-153X","authenticated-orcid":false,"given":"Charlotte","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9462-2836","authenticated-orcid":false,"given":"Louise","family":"Gallagher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2021.104164_bib1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1101\/gr.183483.114","article-title":"Actionable exomic incidental findings in 6503 participants: challenges of variant classification","volume":"25","author":"Amendola","year":"2015","journal-title":"Genome Res."},{"issue":"21","key":"10.1016\/j.ejmg.2021.104164_bib2","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1093\/hmg\/dds301","article-title":"Individual common variants exert weak effects on the risk for autism spectrum disorderspi","volume":"21","author":"Anney","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2021.104164_bib3","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1146\/annurev.genom.9.081307.164207","article-title":"Clinical utility of contemporary molecular cytogenetics","volume":"9","author":"Bejjani","year":"2008","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104164_bib5","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1159\/000279623","article-title":"Debating clinical utility","volume":"13","author":"Burke","year":"2010","journal-title":"Public Health Genomics"},{"issue":"6","key":"10.1016\/j.ejmg.2021.104164_bib7","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/nrg2779","article-title":"Uncovering the roles of rare variants in common disease through whole-genome sequencing","volume":"11","author":"Cirulli","year":"2010","journal-title":"Nat. Rev. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2021.104164_bib8","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/gm381","article-title":"Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns","volume":"4","author":"Coughlin","year":"2012","journal-title":"Genome Med."},{"key":"10.1016\/j.ejmg.2021.104164_bib9","series-title":"Qualitative Inquiry and Research Design: Choosing Among Five Approaches","author":"Creswell","year":"2017"},{"key":"10.1016\/j.ejmg.2021.104164_bib10","series-title":"Regulation (EC) No 141\/2000 of the European Parliament and of the Council of 16 December 1999 on Orphan Medicinal Products","year":"2000"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104164_bib11","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/gim.2011.17","article-title":"New \"first families\": the psychosocial impact of new genetic technologies","volume":"14","author":"Fanos","year":"2012","journal-title":"Genet. Med."},{"issue":"R2","key":"10.1016\/j.ejmg.2021.104164_bib12","doi-asserted-by":"crossref","first-page":"R176","DOI":"10.1093\/hmg\/ddq366","article-title":"Phenotypic variability and genetic susceptibility to genomic disorders","volume":"19","author":"Girirajan","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"14","key":"10.1016\/j.ejmg.2021.104164_bib13","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1056\/NEJMoa1200395","article-title":"Phenotypic heterogeneity of genomic disorders and rare copy-number variants","volume":"367","author":"Girirajan","year":"2012","journal-title":"N. Engl. J. Med."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104164_bib14","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1111\/j.1365-2214.2010.01108.x","article-title":"22q11 deletion syndrome - the meaning of a diagnosis. A qualitative study on parental perspectives","volume":"36","author":"Hallberg","year":"2010","journal-title":"Child Care Health Dev."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104164_bib15","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1352\/0895-8017(2002)107<0222:BPOCWA>2.0.CO;2","article-title":"Behavior problems of children with autism, parental self-efficacy, and mental health","volume":"107","author":"Hastings","year":"2002","journal-title":"Am. J. Ment. Retard."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104164_bib17","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.ejmg.2013.09.002","article-title":"The psychological impact of cryptic chromosomal abnormalities diagnosis announcement","volume":"56","author":"Houdayer","year":"2013","journal-title":"Eur. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104164_bib18","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/j.1365-2206.2006.00397.x","article-title":"Disabled children, parent\u2013child interaction and attachment","volume":"11","author":"Howe","year":"2006","journal-title":"Child Fam. Soc. Work"},{"issue":"4","key":"10.1016\/j.ejmg.2021.104164_bib19","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s12687-015-0218-4","article-title":"Variants of unknown significance on chromosomal microarray analysis: parental perspectives","volume":"6","author":"Jez","year":"2015","journal-title":"Journal of Community Genetics"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104164_bib20","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10897-014-9804-6","article-title":"How can psychological science inform research about genetic counseling for clinical genomic sequencing?","volume":"24","author":"Khan","year":"2015","journal-title":"J. Genet. Counsel."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104164_bib21","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s10897-015-9847-3","article-title":"Parents' perspectives on variants of uncertain significance from chromosome microarray analysis","volume":"25","author":"Kiedrowski","year":"2016","journal-title":"J. Genet. Counsel."},{"issue":"2\u20133","key":"10.1016\/j.ejmg.2021.104164_bib22","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s10912-005-2914-2","article-title":"Mothers and models of disability","volume":"26","author":"Landsman","year":"2005","journal-title":"J. Med. Humanit."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104164_bib23","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1352\/1944-7558-117.3.207","article-title":"Stress, locus of control, and family cohesion and adaptability in parents of children with Down, Williams, Fragile X, and Prader-Willi syndromes","volume":"117","author":"Lanfranchi","year":"2012","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"10.1016\/j.ejmg.2021.104164_bib24","series-title":"Stress, Appraisal, and Coping","author":"Lazarus","year":"1984"},{"issue":"7 Suppl. l","key":"10.1016\/j.ejmg.2021.104164_bib25","doi-asserted-by":"crossref","first-page":"S48","DOI":"10.1038\/ng2092","article-title":"Copy number variations and clinical cytogenetic diagnosis of constitutional disorders","volume":"39","author":"Lee","year":"2007","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104164_bib26","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/ajmg.c.30107","article-title":"Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling","volume":"142C","author":"Lipinski","year":"2006","journal-title":"Am. J. Med. Genet. Part C, Seminars in Medical Genetics"},{"issue":"5","key":"10.1016\/j.ejmg.2021.104164_bib27","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.apnu.2019.08.012","article-title":"Affiliate stigma, perceived social support and perceived stress in caregivers of children with autism spectrum disorder: a multiple mediation study","volume":"33","author":"Lovell","year":"2019","journal-title":"Arch. Psychiatr. Nurs."},{"issue":"8","key":"10.1016\/j.ejmg.2021.104164_bib28","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1002\/ajmg.a.35425","article-title":"Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions","volume":"158A","author":"Madeo","year":"2012","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104164_bib29","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1007\/s10597-011-9422-9","article-title":"Psychological distress and subjective burden of caregivers of people with mental illness: the role of affiliate stigma and face concern","volume":"48","author":"Mak","year":"2012","journal-title":"Community Ment. Health J."},{"issue":"7265","key":"10.1016\/j.ejmg.2021.104164_bib30","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/nature08494","article-title":"Finding the missing heritability of complex diseases","volume":"461","author":"Manolio","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2021.104164_bib31","series-title":"Model of Care for Rare Diseases","year":"2019"},{"issue":"6090","key":"10.1016\/j.ejmg.2021.104164_bib32","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1126\/science.1217876","article-title":"An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people","volume":"337","author":"Nelson","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2021.104164_bib34","series-title":"An Easyguide to Rare Diseases in Ireland and Consensus for Action","author":"Rare Disease Taskforce","year":"2020"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104164_bib35","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1038\/gim.2011.52","article-title":"What does it mean?\": uncertainties in understanding results of chromosomal microarray testing","volume":"14","author":"Reiff","year":"2012","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104164_bib36","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/ajmg.1527","article-title":"Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes","volume":"103","author":"Rosenthal","year":"2001","journal-title":"Am. J. Med. Genet."},{"issue":"7 Suppl. l","key":"10.1016\/j.ejmg.2021.104164_bib37","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.1038\/ng2093","article-title":"Challenges and standards in integrating surveys of structural variation","volume":"39","author":"Scherer","year":"2007","journal-title":"Nat. Genet."},{"issue":"6090","key":"10.1016\/j.ejmg.2021.104164_bib38","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.1219240","article-title":"Evolution and functional impact of rare coding variation from deep sequencing of human exomes","volume":"337","author":"Tennessen","year":"2012","journal-title":"Science"},{"issue":"11","key":"10.1016\/j.ejmg.2021.104164_bib39","doi-asserted-by":"crossref","first-page":"4103","DOI":"10.1016\/j.ridd.2013.08.029","article-title":"Subjective well-being among family caregivers of individuals with developmental disabilities: the role of affiliate stigma and psychosocial moderating variables","volume":"34","author":"Werner","year":"2013","journal-title":"Res. Dev. Disabil."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104164_bib40","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1016\/j.socscimed.2007.04.034","article-title":"A place for genetic uncertainty: parents valuing an unknown in the meaning of disease","volume":"65","author":"Whitmarsh","year":"2007","journal-title":"Soc. Sci. Med."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104164_bib41","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1002\/ajmg.a.37838","article-title":"It wasn't a disaster or anything\": parents' experiences of their child's uncertain chromosomal microarray result","volume":"170","author":"Wilkins","year":"2016","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104164_bib42","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/s10897-016-0060-9","article-title":"Factors associated with parental adaptation to children with an undiagnosed medical condition","volume":"26","author":"Yanes","year":"2017","journal-title":"J. Genet. Counsel."},{"key":"10.1016\/j.ejmg.2021.104164_bib44","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.psychres.2018.03.071","article-title":"Affiliate stigma and depression in caregivers of children with Autism Spectrum Disorders in China: effects of self-esteem, shame and family functioning","volume":"264","author":"Zhou","year":"2018","journal-title":"Psychiatr. Res."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221000306?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221000306?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:50Z","timestamp":1761709850000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221000306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":39,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["S1769721221000306"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104164","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"\u2018More than a box of puzzles\u2019: Understanding the parental experience of having a child with a rare genetic condition\"","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104164","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104164"}}