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Urine organic acid analysis revealed dicarboxylic aciduria, and plasma acylcarnitine analysis showed marked elevation of octanoyl (C8) and decanoyl (C10) carnitines with C8:C10 ratio of 9:1. These results were indicative of medium chain acyl\u2010CoA dehydrogenase deficiency. <jats:italic>ACADM<\/jats:italic> gene sequencing showed an apparent homozygous c.166G\u2009&gt;\u2009C (Ala31Pro) missense mutation in exon 3; however, only the mother was found to be a carrier of this novel missense mutation. This finding along with non\u2010regressive developmental delay prompted further karyotype and genomic investigations. An interstitial deletion of chromosome 1 was detected by repeat G\u2010banding: 46,XX,del(1)(p22.2p31.1). Parental karyotypes were normal. The deletion was characterized by array CGH analysis using a 1 Mb BAC\/PAC array platform. Clones deleted extended from RP11\u201088B10 (1p31.1) to RP5\u20101007M22 (1p22.2), a 15.5 Mb deletion which includes the <jats:italic>ACADM<\/jats:italic> locus. Clinical review of 6\/7 cases of interstitial deletions with breakpoints of 1p22 and 1p31\/32, including the patient in this report, indicate a variable phenotype. Thus, although G\u2010band breakpoints are similar, common breakpoints for these alterations are unlikely. This is the first report of a patient with fatty acid oxidation defect caused by a mutation in combination with an interstitial chromosomal deletion. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32255","type":"journal-article","created":{"date-parts":[[2008,5,13]],"date-time":"2008-05-13T21:46:19Z","timestamp":1210715179000},"page":"1581-1586","source":"Crossref","is-referenced-by-count":11,"title":["Interstitial deletion of 1p22.2p31.1 and medium\u2010chain acyl\u2010CoA dehydrogenase deficiency in a patient with global developmental delay"],"prefix":"10.1002","volume":"146A","author":[{"given":"Gustavo H.B.","family":"Maegawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola K.","family":"Poplawski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brage 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