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Type: Artigo
Title: 22q11.2 Deletion Syndrome In Diverse Populations
Author: Kruszka
Paul; Addissie
Yonit A.; McGinn
Daniel E.; Porras
Antonio R.; Biggs
Elijah; Share
Matthew; Crowley
T. Blaine; Chung
Brian H. Y.; Mok
Gary T. K.; Mak
Christopher C. Y.; Muthukumarasamy
Premala; Thong
Meow-Keong; Sirisena
Nirmala D.; Dissanayake
Vajira H. W.; Paththinige
C. Sampath; Prabodha
L. B. Lahiru; Mishra
Rupesh; Shotelersuk
Vorasuk; Ekure
Ekanem Nsikak; Sokunbi
Ogochukwu Jidechukwu; Kalu
Nnenna; Ferreira
Carlos R.; Duncan
Jordann-Mishael; Patil
Siddaramappa Jagdish; Jones
Kelly L.; Kaplan
Julie D.; Abdul-Rahman
Omar A.; Uwineza
Annette; Mutesa
Leon; Moresco
Angelica; Gabriela Obregon
Maria; Richieri-Costa
Antonio; Gil-da-Silva-Lopes
Vera L.; Adeyemo
Adebowale A.; Summar
Marshall; Zackai
Elaine H.; McDonald-McGinn
Donna M.; Linguraru
Marius George; Muenke
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 < 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.
Subject: 22q11.2 Deletion Syndrome
Digeorge Syndrome
Diverse Populations
Facial Analysis Technology
Velocardiofacial Syndrome
Editor: Wiley-Blackwell
Citation: American Journal Of Medical Genetics Part A. Wiley-blackwell, v. 173, p. 879 - 888, 2017.
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.38199
Date Issue: 2017
Appears in Collections:Unicamp - Artigos e Outros Documentos

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