Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Gen...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Connect with organizations supporting the chromosomal disorder community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
1 peer-reviewed source from PubMed
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.