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22q11.2 deletion syndrome 🧬
For education and revision only. Check current NICE/BNF, specialist guidance and local NHS policy before clinical use. Newly added V19 material has not received independent clinical sign-off.
The 22q11.2 deletion spectrum (historically called DiGeorge/velocardiofacial syndrome) has variable expression and may present at any age.
Recognise
- Conotruncal heart defects, palatal dysfunction, hypocalcaemia from parathyroid dysfunction and variable T-cell immunodeficiency.
- Speech, feeding, neurodevelopmental, renal and later psychiatric problems may occur.
Safety and follow-up
- If suspected with seizures, check corrected/ionised calcium; evaluate infection history and avoid assumptions about live-vaccine safety pending immunology assessment.
- Refer to clinical genetics, cardiology, immunology/endocrinology and speech/cleft teams as appropriate.
UK sources / further reading: NHS Genomic Test Directory
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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