5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

• Published in: American journal of medical genetics. Part A Vol. 185; no. 12; pp. 3844 - 3850
• Main Authors: Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J. G., Hjortshøj, Tina Duelund
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.12.2021; Wiley Subscription Services, Inc
• Subjects: 5q11.2 microdeletion syndrome; Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Anemia, Macrocytic - genetics; Anemia, Macrocytic - physiopathology; CHARGE syndrome; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 5 - genetics; Comparative Genomic Hybridization; Cytokine Receptor gp130 - genetics; developmental delay; Developmental Disabilities - genetics; Developmental Disabilities - physiopathology; DHX29; Facies; Heart Defects, Congenital - genetics; Heart Defects, Congenital - physiopathology; Humans; immunodeficiency; Infant; Infant, Newborn; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Interleukin 6; Learning Disabilities - genetics; Learning Disabilities - physiopathology; Male; Phenotype; RNA Helicases - genetics; shortest region of overlap; developmental delay; 5q11.2 microdeletion syndrome; immunodeficiency; DHX29; shortest region of overlap

Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 a...