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Variable phenotypes in velocardiofacial syndrome with chromosomal deletion
B Motzkin1, R Marion, R Goldberg
1Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York 10467.
The Journal of Pediatrics
|September 1, 1993
Summary
Velocardiofacial syndrome (VCF) is linked to a 22q11 deletion in all patients. This deletion does not predict the specific symptoms or severity of VCF, highlighting the need for ongoing medical surveillance.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Velocardiofacial syndrome (VCF) shares features with DiGeorge sequence, both potentially arising from contiguous gene deletions.
- The established link between chromosome 22q11 deletion and DiGeorge sequence prompted investigation in VCF patients.
Purpose of the Study:
- To investigate the presence of chromosome 22q11 deletion in patients diagnosed with VCF.
- To correlate the 22q11 deletion with the clinical manifestations observed in VCF patients.
Main Methods:
- Molecular analysis of chromosome 22 was performed on 18 VCF patients (ages 6-42).
- Retrospective correlation of the 22q11 deletion with documented clinical findings.
Main Results:
- All 18 VCF patients exhibited monosomy for the 22q11 region.
- High prevalence of clinical features including cleft palate (100%), cardiac disease (83%), and learning disabilities (94%) was observed.
- The deletion was present in both severely and mildly affected individuals, with variable penetrance for other symptoms like psychiatric disorders (22%) and hypocalcemia (17%).
Conclusions:
- The 22q11 deletion is a consistent finding in Velocardiofacial syndrome.
- The presence and size of the 22q11 deletion do not reliably predict the phenotypic expression in VCF patients.
- Continuous medical surveillance is crucial for VCF patients to monitor for potentially developing medical complications.