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In this study, we identified two patients with approximately 5\u2010Mb overlapping deletions in the 3q26.2q26.31 region. Both patients showed neurodevelopmental delays, congenital heart defects, and distinctive facial features. One of them showed growth deficiency and brain abnormalities, as shown on a magnetic resonance imaging scan. Haploinsufficiency of <jats:italic>NLGN1<\/jats:italic> and <jats:italic>FNDC3B<\/jats:italic> present in the common deletion region was considered to be responsible for neurodevelopmental delay and the distinctive features, respectively. The possibility of unmasked variants in <jats:italic>PLD1<\/jats:italic> was considered and analyzed, but no possible pathogenic variant was found, and the mechanism of the congenital heart defects observed in the patients is unknown. Because 3q26.2q26.31 deletions are rare, more information is required to establish genotype\u2013phenotype correlations associated with microdeletions in this region.<\/jats:p>","DOI":"10.1002\/ajmg.a.63034","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T07:45:46Z","timestamp":1667893546000},"page":"400-407","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features"],"prefix":"10.1002","volume":"191","author":[{"given":"Takeaki","family":"Tamura","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health Nihon University School of Medicine  Tokyo Japan"},{"name":"Division of Gene Medicine Graduate School of Medical Science, Tokyo Women's Medical University  Tokyo Japan"},{"name":"Department of Transfusion Medicine and Cell Processing Tokyo 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