Age of diagnosis for children with chromosome 15q syndromes.

Anne C WheelerMarie G GantzHeidi CopeTheresa V StrongJessica E BohonowychAmanda MooreVanessa Vogel-Farley

Published in: Journal of neurodevelopmental disorders (2023)

Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions.

Keyphrases

young adults
copy number
physical activity
gene expression
dna methylation