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Is DiGeorge Syndrome (22q11.2 deletion) Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-dominant
- Key genes
- TBX1
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Caused by a deletion of chromosome 22q11.2 resulting in heart defects immune deficiency palate abnormalities and learning difficulties.
How Genetic Is DiGeorge Syndrome (22q11.2 deletion)?
DiGeorge Syndrome (22q11.2 deletion) has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with DiGeorge Syndrome (22q11.2 deletion): TBX1. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for DiGeorge Syndrome (22q11.2 deletion)?
Yes — family history is one of the strongest predictors of DiGeorge Syndrome (22q11.2 deletion). If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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