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Microdeletion 22q11.2, Kousseff syndrome and spina bifida
Mary J Seller1, Shehla Mohammed, Jo Russell
1The Division of Medical and Molecular Genetics, The Guy's, King's and St Thomas' School of Medicine and Dentistry, London, UK. mary.seller@kcl.ac.uk
Clinical Dysmorphology
|May 11, 2002
Summary
Spina bifida, a neural tube defect, is now recognized as a feature of 22q11.2 deletion syndrome. This finding expands the understanding of this genetic condition and its varied presentations.
Area of Science:
- Genetics
- Developmental Biology
- Medical Diagnostics
Background:
- 22q11.2 deletion syndrome is a genetic disorder known for a wide range of symptoms.
- Previously, sacral spina bifida was not commonly associated with this syndrome.
Observation:
- A fetus presented with sacral spina bifida and a cardiac defect (ventricular septal defect) on ultrasound.
- Postmortem examination revealed a conotruncal abnormality, cleft palate, facial dysmorphism, and spina bifida.
- Initial diagnosis considered Kousseff syndrome, but genetic testing identified a 22q11.2 deletion.
Findings:
- Detailed cytogenetic analysis confirmed a 22q11.2 deletion in the fetus.
- The constellation of findings, including spina bifida, aligns with the known variable phenotype of 22q11.2 deletion syndrome.
Implications:
- This case suggests that spina bifida should be considered a potential feature of 22q11.2 deletion syndrome.
- Recognizing spina bifida broadens the diagnostic spectrum for this common microdeletion.
- Further research may elucidate the specific mechanisms linking 22q11.2 deletions to neural tube defects.