Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis - Digilio, M. Cristina; Bernardini, Laura; Consoli, Federica; Lepri, Francesca R.; Giuffrida, M. Grazia; Baban, Anwar; Surace, Cecilia; Ferese, Rosangela; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; De Luca, Alessandro; et al. (European journal of medical genetics, 2013)
Keywords: 1q21.1 Deletion; 1q21.1 Duplication; Adult; CGH array; Chromosome Deletion; Chromosome Duplication; Chromosomes, Human, Pair 1 - genetics; Cognition Disorders - genetics; Congenital heart defect; Developmental Disabilities - genetics; Female; Heart Defects, Congenital - genetics; Heart Septal Defects, Atrial - genetics; Humans; Infant; Karyotyping; Male; Medical Education; Pulmonary Valve Stenosis - genetics; CGH array; 1q21.1 Duplication; Congenital heart defect; 1q21.1 Deletion