{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:41Z","timestamp":1740164141142,"version":"3.37.3"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene.<jats:italic> Case Description<\/jats:italic>. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle. Both parents had normal phenotypes. OA-CGH was performed and a 436\u2009Kb duplication was detected and the diagnosis of PMD was made. The mother was carrier of this 436\u2009Kb duplication.<jats:italic> Conclusion<\/jats:italic>. Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions. However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array.<\/jats:p>","DOI":"10.1155\/2017\/2706098","type":"journal-article","created":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T16:03:57Z","timestamp":1483545837000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0951-9779","authenticated-orcid":true,"given":"Kimia","family":"Najafi","sequence":"first","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaveh","family":"Hosseini","sequence":"additional","affiliation":[{"name":"Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azadeh","family":"Moshtagh","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gole Maryam","family":"Abbassi","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neda","family":"Sadatian","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masood","family":"Bazrgar","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad Hassan","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0207-y"},{"issue":"1","key":"2","first-page":"32","volume":"59","year":"1996","journal-title":"The American Journal of Human Genetics"},{"issue":"6","key":"3","first-page":"1355","volume":"49","year":"1991","journal-title":"American Journal of Human Genetics"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.24.9807"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1958.02340080032004"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.117.1.225"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691328"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1086\/302483"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1086\/342728"},{"year":"1999","series-title":"Initial Posting","key":"8"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10036"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.10.1494"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.51.2.540"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330519"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-9236"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/2706098.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/2706098.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/2706098.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,1,10]],"date-time":"2017-01-10T16:09:25Z","timestamp":1484064565000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2017\/2706098\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":16,"alternative-id":["2706098","2706098"],"URL":"https:\/\/doi.org\/10.1155\/2017\/2706098","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2017]]}}}