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The current report presents a new family with this recurrent deletion identified via whole\u2010exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right\u2010sided cleft lip\/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30\u2010fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole\u2010genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion.<\/jats:p>","DOI":"10.1002\/ajmg.a.63015","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T12:20:15Z","timestamp":1667305215000},"page":"205-219","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole\u2010exome sequencing"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6150-9957","authenticated-orcid":false,"given":"Barbara","family":"Biedziak","sequence":"first","affiliation":[{"name":"Department of Orthodontics and Craniofacial Anomalies Poznan University of Medical Sciences  Poznan 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