22q11.2 deletion syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, Antonio R. Porras, Elijah Biggs, Matthew Share, T. Blaine Crowley, Brian H.Y. Chung, Gary T.K. Mok, Christopher C.Y. Mak, Premala Muthukumarasamy, Meow Keong Thong, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, L. B.Lahiru Prabodha, Rupesh Mishra, Vorasuk Shotelersuk, Ekanem Nsikak Ekure, Ogochukwu Jidechukwu SokunbiNnenna Kalu, Carlos R. Ferreira, Jordann Mishael Duncan, Siddaramappa Jagdish Patil, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Antonio Richieri-Costa, Vera L. Gil-da-Silva-Lopes, Adebowale A. Adeyemo, Marshall Summar, Elaine H. Zackai, Donna M. McDonald-McGinn, Marius George Linguraru, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

82 Scopus citations


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 < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world.

Original languageEnglish (US)
Pages (from-to)879-888
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 1 2017
Externally publishedYes


  • 22q11.2 Deletion syndrome
  • DiGeorge syndrome
  • Velocardiofacial Syndrome
  • diverse populations
  • facial analysis technology

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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