Botto, L.D., May, K., Fernhoff, P.M., Correa, A., Coleman, K., Rasmussen, S.A., Merritt, R.K., O’Leary, L.A., Wong, L.Y., Elixson, E.M., Mahle, W.T. and Campbell, R.M. (2003) A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population. Pediatrics, 112, 101-107. doi:10.1542/peds.112.1.101

has been cited by the following article:

• TITLE: Williams-Beuren syndrome: Usual face, unusual heart

  AUTHORS: Natalia Marin Huarte, Luis García-Guereta, Pablo Lapunzina

  KEYWORDS: Williams-Beuren Syndrome; Tetralogy of Fallot; Genetic Diagnosis

  JOURNAL NAME: Open Journal of Genetics, Vol.3 No.1, March 29, 2013

  ABSTRACT: Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have some kind of cardiovascular disorder being supravalvular aortic stenosis and pulmonary artery stenosis the most frequent. This syndrome is due to a contiguous gene deletion (1- to 2-megabase deletion on the long arm of chromosome 7), including the entire elastin gene and 20 additional genes. We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association. Diagnosis of WB-S could be made because of typical facial features. Characteristic WB-S deletion was present. Genetic study to rule out 22q11 deletion was also performed.