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
Phenotype data collection directly from parents of a child with a chromosome 6 aberration via an online questionnaire....
- 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
- Number of participants
250
- Age group at inclusion
All ages
- Main medical condition
- XVII Congenital malformations, deformations and chromosomal abnormalities
- Q90-Q99 Chromosomal abnormalities, not elsewhere classified
- Q99.9 Other chromosome abnormalities, not elsewhere classified - Chromosomal abnormality, unspecified
- Marker 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
Contact and Contributors
- A (Aafke) Engwerdaa.engwerda@gmail.com
- prof. dr. CMA (Conny) Van Ravenswaaij-Artsc.m.a.van.ravenswaaij@umcg.nl
- E (Eleana) Rrakue.rraku@umcg.nl
Available Data & Samples
Data categories
- Survey data
- Omics
- Genomics
Areas of information
- Socio-demographic and economic characteristics
- Age/birthdate
- Sex/gender
- Health and community care services utilization
- Hospitalizations
- Lifestyle and behaviours
- Sleep
- Birth, pregnancy and reproductive health history
- Puberty, menstruation, menopause and andropause
- Pregnancy, delivery and birth
- Perception of health, quality of life, development and functional limitations
- Life course development
- Use of assistive devices
- Medication and supplements
- Medication and supplement intake
- Non-pharmacological interventions
- Surgical interventions
- Radiological interventions
- Cognitive, psychological and sensory interventions
- Educational and health promotion interventions
- Laboratory diagnosis interventions
- Physical measures and assessments
- Physical characteristics
- Anthropometry
- Circulation and respiration
- Muscles, skeleton and mobility
- Sensory and pain
- Brain and nerves
- Skin and subcutaneous tissue
- Speech and voice
- Digestion
- Other physical measures and assessments
- Laboratory measures
- Genomics
- Cognition, personality and psychological measures and assessments
- Cognitive functioning
- Personality
- Administrative information
- Identifiers
- Date and time-related information
- Questionnaire and interview-related information
Subpopulations
List of subcohorts or subpopulations for this resource...
| Name | Description | Number of participants |
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Collection events
List of collection events defined for this resource...
| Name | Description | Participants | Start end year |
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Access conditions
Terms and conditions in consultation....
- Conditions
disease specific research
Funding & Citation requirements
- Funding
This work was supported by a grant from ZonMw (113312101)
- Citation requirements
The project is supported by chromosome 6 parents.