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This child demonstrated hypotonia, developmental delays, growth deficiency, microcephaly, dysmorphic facial features, and white matter abnormalities, consistent with previous cases of 22q13 region duplication. The patient also demonstrated a unique pattern of electron transport chain abnormalities with marked decreases in complex II and II\/III in fibroblasts and complex I\/III and II\/III in muscle tissue. The 22q13.1-33 region contains 6 genes associated with mitochondrial function. Thus, disruption of this chromosomal region could cause many of the clinical findings in this child through disruption of mitochondrial function. Therefore, a mitochondrial workup should be considered in individuals with copy number changes within the 22q13 region, such as those with Phelan\u2013McDermid syndrome.<\/jats:p>","DOI":"10.1177\/0883073811429858","type":"journal-article","created":{"date-parts":[[2012,2,29]],"date-time":"2012-02-29T21:55:54Z","timestamp":1330552554000},"page":"942-949","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":21,"title":["Mitochondrial Disease in 22q13 Duplication Syndrome"],"prefix":"10.1177","volume":"27","author":[{"given":"Richard E.","family":"Frye","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Arkansas Children\u2019s Hospital, Little Rock, AR, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,2,28]]},"reference":[{"key":"bibr1-0883073811429858","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"APA","year":"1994","edition":"4"},{"key":"bibr2-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318212f16b"},{"key":"bibr3-0883073811429858","author":"Rossignol D","journal-title":"Mol Psychiatry"},{"key":"bibr4-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328336a01f"},{"key":"bibr5-0883073811429858","first-page":"354","volume":"2","author":"Herbert MR","year":"2005","journal-title":"Clin Neuropsychiatry"},{"key":"bibr6-0883073811429858","volume-title":"American Society of Human Genetics 59th Annual Meeting","author":"Scaglia F","year":"2009"},{"key":"bibr7-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1038\/15513"},{"key":"bibr8-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.795"},{"key":"bibr9-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.6.950"},{"key":"bibr10-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32523"},{"key":"bibr11-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10596"},{"key":"bibr12-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005592401947"},{"key":"bibr13-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(06)80004-X"},{"key":"bibr14-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809342004"},{"key":"bibr15-0883073811429858","author":"Frye RE","journal-title":"J Pediatr Neurol"},{"key":"bibr16-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2911"},{"key":"bibr17-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200101000-00008"},{"key":"bibr18-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.104"},{"key":"bibr19-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20807"},{"key":"bibr20-0883073811429858","first-page":"135","volume":"336","author":"Wong LJ","year":"2006","journal-title":"Methods Mol Biol"},{"key":"bibr21-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1293.029"},{"key":"bibr22-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60595-8"},{"key":"bibr23-0883073811429858","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000244435.27645.54"},{"key":"bibr24-0883073811429858","doi-asserted-by":"crossref","unstructured":"Lopez LC, Akman HO, Garcia-Cazorla A, Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. 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