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Revista Clínica de Medicina de Familia

On-line version ISSN 2386-8201Print version ISSN 1699-695X

Abstract

SIERRA SANTOS, Lucía; CASASECA GARCIA, Pilar; GARCIA MORENO, Alfonso  and  MARTIN GUTIERREZ, Vicente. DiGeorge syndrome. Rev Clin Med Fam [online]. 2014, vol.7, n.2, pp.141-143. ISSN 2386-8201.  http://dx.doi.org/10.4321/S1699-695X2014000200010.

The DiGeorge or velocardiofacial syndrome occurs in 1:4000 live births and is a rare condition which corresponds to chromosome 22 22q11 deletion in 90% of cases. This syndrome may include facial defects, congenital heart disease, thymic hyperplasia, hypoparathyroidism and kidney, immunological and psychiatric disorders. Many of these patients may reach adulthood and require medical care and supervision throughout their whole lives.

Keywords : DiGeorge syndrome; Velocardiofacial syndrome; Immunity; Thymus Gland.

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