{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:19Z","timestamp":1753869739713,"version":"3.41.2"},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,17]],"date-time":"2020-01-17T00:00:00Z","timestamp":1579219200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The Xq22.2 q23 is a complex genomic region which includes the genes <jats:italic>MID2<\/jats:italic> and <jats:italic>PLP1<\/jats:italic> associated with FG syndrome 5 and Pelizaeus\u2013Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Chromosome microarray revealed a 6.7\u00a0Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the <jats:italic>PLP1<\/jats:italic> (OMIM# 300401) and <jats:italic>MID2<\/jats:italic> (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of <jats:italic>PLP1<\/jats:italic> are associated with X\u2010linked recessive Pelizaeus\u2013Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the <jats:italic>MID2<\/jats:italic> has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our patient's clinical features appear to be influenced by the <jats:italic>PLP1<\/jats:italic> duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1078","type":"journal-article","created":{"date-parts":[[2020,1,17]],"date-time":"2020-01-17T15:41:36Z","timestamp":1579275696000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A male infant with Xq22.2q22.3 duplication containing <i>PLP1<\/i> and <i>MID2<\/i>"],"prefix":"10.1002","volume":"8","author":[{"given":"Swati R.","family":"Chanchani","sequence":"first","affiliation":[{"name":"Department of Pediatrics St. Christopher's Hospital for Children Drexel University College of Medicine Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyan","family":"Xie","sequence":"additional","affiliation":[{"name":"Tricore Reference Laboratory Albuquerque NM USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurbax","family":"Sekhon","sequence":"additional","affiliation":[{"name":"Integrated Genetics NM Santa Fe USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana M.","family":"Melikishvili","sequence":"additional","affiliation":[{"name":"A. 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