Beschreibung:
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.
Synonym(s):
Hypoplasie von Thymus und Parathyreoidea /
Velokardiofaziales Syndrom /
Chromosom-22q11.2-Deletionssyndrom /
Velo-kardio-faziales Syndrom /
Krankheiten
Immunologische Krankheiten