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22q11.2 deletion syndrome in diverse populations

Kruszka P 1 , Addissie YA 1 , McGinn DE 2 , Porras AR 3 , Biggs E 3 , Share M 2 Show all authors , Crowley TB 2 , Chung BH 4 , Mok GT 4 , Mak CC 4 , Muthukumarasamy P 5 , Thong MK 5 , Sirisena ND 6 , Dissanayake VH 6 , Paththinige CS 6 , Prabodha LB 6 , Mishra R 6 , Shotelersuk V 7 , Ekure EN 8 , Sokunbi OJ 8 , Kalu N 8 , Ferreira CR 9 , Duncan JM 1 , Patil SJ 10 , Jones KL 11 , Kaplan JD 11 , Abdul-Rahman OA 11 , Uwineza A 12 , Mutesa L 12 , Moresco A 13 , Obregon MG 13 , Richieri-Costa A 14 , Gil-da-Silva-Lopes VL 15 , Adeyemo AA 16 , Summar M 9 , Zackai EH 2 , McDonald-McGinn DM 2 , Linguraru MG 3 , Muenke M 1

Affiliations 

  • 1 Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland
  • 2 Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania
  • 3 Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C
  • 4 Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China
  • 5 Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia
  • 6 Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka
  • 7 Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand
  • 8 Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria
  • 9 Division of Genetics and Metabolism, Children's National Health System, Washington, D.C
  • 10 Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India
  • 11 Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi
  • 12 Center of Human Genetics/School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda
  • 13 Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
  • 14 Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil
  • 15 Department of Medical Genetics, University of Campinas, São Paulo, Brazil
  • 16 Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland
Am J Med Genet A, 2017 Apr;173(4):879-888.
PMID: 28328118 DOI: 10.1002/ajmg.a.38199

Abstract

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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