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

Cohort type

Case only

Design

Longitudinal

Design description

Phenotype data collection directly from parents of a child with a chromosome 6 aberration via an online questionnaire.

Collection type

Retrospective, Prospective

Start/End year

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

Age group at inclusion

All ages

Main medical condition
  • XVII Congenital malformations, deformations and chromosomal abnormalities

Contact and Contributors

Lead organisation

  • University Medical Centre Groningen

Contacts

Available Data & Samples

Data categories

  • Survey data
  • Omics

Areas of information

  • Socio-demographic and economic characteristics
  • Health and community care services utilization
  • 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
  • Physical measures and assessments
  • Laboratory measures
  • Cognition, personality and psychological measures and assessments
  • Administrative information

Subpopulations

List of subcohorts or subpopulations for this resource...

Collection events

List of collection events defined for this resource...

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