Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.

ABSTRACT: Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature and existing databases. Yet this clinical information is of utmost importance for health professionals and the parents of children with rare diseases. Since existing databases are often hampered by the limited time and willingness of health professionals to input new data, we collected phenotype data directly from parents of children with a chromosome 6 disorder. These parents were reached via social media, and the information was collected via the online Chromosome 6 Questionnaire, which includes 115 main questions on congenital abnormalities, medical problems, behaviour, growth and de

SUBMITTER: Engwerda A 

PROVIDER: S-EPMC10024830 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature