SCIRP Mobile Website
Paper Submission

Why Us? >>

  • - Open Access
  • - Peer-reviewed
  • - Rapid publication
  • - Lifetime hosting
  • - Free indexing service
  • - Free promotion service
  • - More citations
  • - Search engine friendly

Free SCIRP Newsletters>>

Add your e-mail address to receive free newsletters from SCIRP.


Contact Us >>

WhatsApp  +86 18163351462(WhatsApp)
Paper Publishing WeChat
Book Publishing WeChat

Article citations


Fernández, L., Lapunzina, P., Pajares, I.L., Palomares, M., Martínez, I., Fernández, B., Quero, J., García-Guereta, L., García-Alix, A., Burgueros, M., Galán-Gómez, E., Carbonell-Pérez, J.M., Pérez-Granero, A., Torres-Juan, L., Heine-Su?er, D., Rosell, J. and Delicado, A. (2008) Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion. American Journal of Medical Genetics, 146A, 1134-1141.

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.