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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Is 22q11.2 deletion syndrome truly less common in ...
Is 22q11.2 deletion syndrome truly less common in Black patients?
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Pdf Summary
This study aimed to determine if African Americans with 22q11.2 deletion syndrome (22q11.2DS) are accurately identified and if the syndrome is less common in this population. The researchers conducted a retrospective chart review on 1620 patients with 22q11.2DS, comparing self-reported Black and White patients. They also used Face2Gene technology to analyze recognizable facial features in Black patients with the syndrome.<br /><br />The results showed that the mean age at diagnosis for the entire cohort was 5.1 years, with no significant difference between Black and White patients. The presence and type of congenital heart disease (CHD) affected the age at diagnosis, with Black patients generally being diagnosed at a younger age. Additional co-morbidities did not have a significant impact on the age at diagnosis.<br /><br />Geocodes were found to be significant, with Black patients traveling a shorter distance to the study center compared to White patients. Familial deletions were more common in Black patients. Face2Gene technology successfully recognized 22q11.2DS in both Black and White patients, indicating that the lack of craniofacial features is not a limiting diagnostic factor.<br /><br />Overall, the study suggests that 22q11.2DS is less common in African Americans, as demonstrated by the lower representation of Black patients in the cohort. This may be explained by differences in 22q11.2 low copy repeats (LCRs) across populations. The findings highlight the importance of early and accurate diagnosis, as well as the need for increased awareness and recognition of the syndrome in African American individuals.
Asset Subtitle
Co-Author - Donna M. McDonald-McGinn, MS; Co-Author - Terrence B. Crowley, Other; Presenting Author - Daniel E. McGinn, BS; Co-Author - Kimberly Gaiser, BA; Co-Author - Victoria Giunta, BS; Co-Author - Lauren Lairson, BS; Co-Author - Elaine Zackai, MD; Co-Author - Oanh Tran, BS; Co-Author - Matt Share, MS; Co-Author - Kathleen D. Valverde, MSGC; Co-Author - Steven Pastor, PhD; Co-Author - Beverly S. Emanuel, PhD;
Meta Tag
Chromosomal Abnormalities
Clinical Cytogenetics
Delineation of Diseases
Etiology
Genetic Diversity
Population Genetics
Co-Author
Donna M. McDonald-McGinn, MS
Co-Author
Terrence B. Crowley, Other
Co-Author
Kimberly Gaiser, BA
Co-Author
Victoria Giunta, BS
Co-Author
Lauren Lairson, BS
Co-Author
Elaine Zackai, MD
Co-Author
Oanh Tran, BS
Co-Author
Matt Share, MS
Co-Author
Kathleen D. Valverde, MSGC
Co-Author
Steven Pastor, PhD
Co-Author
Beverly S. Emanuel, PhD
Presenting Author
Daniel E. McGinn, BS
Keywords
African Americans
22q11.2 deletion syndrome
accurate identification
population differences
retrospective chart review
congenital heart disease
age at diagnosis
geocodes
Familial deletions
Face2Gene technology
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