22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.

@article{Cuneo200122q112DS,
  title={22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.},
  author={Bettina F Cuneo},
  journal={Current opinion in pediatrics},
  year={2001},
  volume={13 5},
  pages={465-72}
}
A microdeletion of chromosome 22q11.2 is found in most patients with velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, and in some patients with Cayler cardiofacial and autosomal dominant Opitz-G/BBB syndromes. A wide spectrum of clinical findings accompanies the 22q11.2 deletion, without genotype or phenotype correlation even among affected family members. Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 32 extracted citations

Similar Papers

Loading similar papers…