Ontology highlight
ABSTRACT:
SUBMITTER: Kruszka P
PROVIDER: S-EPMC5363275 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Kruszka Paul P Addissie Yonit A YA McGinn Daniel E DE Porras Antonio R AR Biggs Elijah E Share Matthew M Crowley T Blaine TB Chung Brian H Y BH Mok Gary T K GT Mak Christopher C Y CC Muthukumarasamy Premala P Thong Meow-Keong MK Sirisena Nirmala D ND Dissanayake Vajira H W VH Paththinige C Sampath CS Prabodha L B Lahiru LB Mishra Rupesh R Shotelersuk Vorasuk V Ekure Ekanem Nsikak EN Sokunbi Ogochukwu Jidechukwu OJ Kalu Nnenna N Ferreira Carlos R CR Duncan Jordann-Mishael JM Patil Siddaramappa Jagdish SJ Jones Kelly L KL Kaplan Julie D JD Abdul-Rahman Omar A OA Uwineza Annette A Mutesa Leon L Moresco Angélica A Obregon María Gabriela MG Richieri-Costa Antonio A Gil-da-Silva-Lopes Vera L VL Adeyemo Adebowale A AA Summar Marshall M Zackai Elaine H EH McDonald-McGinn Donna M DM Linguraru Marius George MG Muenke Maximilian M
American journal of medical genetics. Part A 20170401 4
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 a ...[more]