Article
[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Oct 2008
Ballesta Martínez M J, Guillén Navarro E, López Expósito I, Bafalliu Vidal J A, Domingo Jiménez R, Guía Torrent J M, Robles Sánchez F, Sánchez Solís de Querol M
Abstract excerpt
INTRODUCTION: The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of...
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