Definição:
Congenital syndrome characterized by a spectrum of malformations including the absence of the and resulting in T-cell immunodeficiency and . Other features include defects in the outflow tract of the and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.
Sinônimos:
agenesia do timo /
aplasia do timo /
displasia do timo /
sandrome de shprintzen /