{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T17:05:27Z","timestamp":1748365527719},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,6]],"date-time":"2015-11-06T00:00:00Z","timestamp":1446768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:label \/><jats:p>Several studies have recently reported that 22q12.1 deletions encompassing the <jats:italic>MN1<\/jats:italic> gene are associated with craniofacial anomalies. These observations are consistent with the hypothesis that <jats:italic>MN1<\/jats:italic> haploinsufficiency may be solely responsible for craniofacial anomalies and\/or cleft palate. We report here the case of a 4\u2010year\u2010old boy presenting with global developmental delay and craniofacial anomalies including severe maxillary protrusion and retromicrognathia. Array\u2010CGH detected a 2.4\u2009Mb de novo deletion of chromosome 22q12.1 which did not encompass the <jats:italic>MN1<\/jats:italic> gene thought to be the main pathological candidate in 22q12.1 deletions. This observation, combined with data from other patients from the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensemble Resources (DECIPHER), suggests that other gene(s) in the 22q12.1 region are likely involved in craniofacial anomalies and\/or may contribute to the phenotypic variability observed in patients with <jats:italic>MN1<\/jats:italic> deletion. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37450","type":"journal-article","created":{"date-parts":[[2015,11,7]],"date-time":"2015-11-07T00:29:51Z","timestamp":1446856191000},"page":"498-503","source":"Crossref","is-referenced-by-count":7,"title":["Microdeletion del(22)(q12.1) excluding the <i>MN1<\/i> gene in a patient with craniofacial anomalies"],"prefix":"10.1002","volume":"170","author":[{"given":"Caroline","family":"Bosson","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU de 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