Related Experiment Video
Updated: Jul 21, 2026
17:14
Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
Published on: December 10, 2012
14.0K
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency
Aafke Engwerda1, Barbara Frentz2, Eleana Rraku1
1Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Orphanet Journal of Rare Diseases
|March 20, 2023
Summary
Parent-reported phenotypes for chromosome 6 disorders are highly consistent and provide more clinical data than existing literature. This highlights the value of patient participation in rare disease research.
Area of Science:
- Genetics
- Rare Diseases
- Clinical Phenotyping
Background:
- Knowledge gaps exist regarding the phenotypic spectrum of rare chromosomal disorders.
- Existing databases are limited by healthcare professional time and willingness to input data.
- Parental input is crucial for comprehensive rare disease information.
Purpose of the Study:
- To assess the consistency and availability of phenotype data collected directly from parents of children with chromosome 6 disorders.
- To compare parent-reported data with existing medical records and literature.
- To evaluate the reliability of parent-reported phenotypes in rare disease research.
Main Methods:
- Phenotype data collected from parents via the online Chromosome 6 Questionnaire.
- Data consistency assessed by comparing parent reports to medical files (n=20).
- Data availability compared between parent reports (n=34) and existing literature (n=39).
Main Results:
- High consistency (85-97%) between parent-reported phenotypes and medical files.
- Parent-reported data yielded significantly more information on most clinical characteristics than literature.
- No significant difference in data amount for developmental delay and brain abnormalities; literature had more on specific brain abnormality types.
Conclusions:
- Parent-reported phenotypes are a reliable and valuable source of information for rare chromosomal disorders.
- The online Chromosome 6 Questionnaire effectively gathers comprehensive phenotype data.
- Active patient participation significantly enhances understanding of rare disease phenotypes.
