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
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Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
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European rare disease database
1 peer-reviewed source from PubMed
Common questions about chromosomal disorder
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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