C6P

Chromosome 6 Project...

Description

The Chromosome 6 Project collects phenotype information (clinical characteristics, development, behaviour and appearance of an individual) on all different chromosome 6 aberrations (deletions and duplications) directly from individuals, or their pare...

General Design

Type
Cohort study
Cohort type
Case only
Data collection type
Retrospective, Prospective
Design
Longitudinal
Design description
Phenotype data collection directly from parents of a child with a chromosome 6 aberration via an online questionnaire.
Start/End data collection
2013 (ongoing)
Design paper
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports
PID
https://doi.org/10.34760/65265e9bf40d0

Population

Number of participants
250
Population age groups
All ages
Main medical condition
  • XVII Congenital malformations, deformations and chromosomal abnormalities
Other inclusion criteria
Isolated chromosome 6 aberration and the availability of a microarray report.

Organisations

Lead organisations

Contributors

Available Data & Samples

Data categories

  • Survey data
  • Omics

Areas of information

  • Socio-demographic and economic characteristics
  • Lifestyle and behaviours
  • Birth, pregnancy and reproductive health history
  • Perception of health, quality of life, development and functional limitations
  • Medication and supplements
  • Non-pharmacological interventions
  • Health and community care services utilization
  • Physical measures and assessments
  • Laboratory measures
  • Cognition, personality and psychological measures and assessments
  • Administrative information

Subpopulations

List of subpopulations for this resource...

Collection events

List of collection events defined for this resource...

Publications

Access conditions

Terms and conditions in consultation....

Data access conditions
disease specific research
Data use conditions
  • research specific restrictions
  • genetic studies only
  • not for profit, non commercial use only
  • collaboration required
  • project specific restriction

Funding & Acknowledgements

Funding
This work was supported by a grant from ZonMw (113312101)
Acknowledgements
The project is supported by chromosome 6 parents.

Documentation