Définition:
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 21q11.2 or mutation in the TBX1 gene.
Synonyme(s):
CATCH 22 /
CATCH 22 (Cardiac anomaly, Abnormal face, Thymus hypoplasia, Cleft palate, Hypocalcaemia, 22 chromosome) /
SDG (Syndrome de DiGeorge) /
Syndrome de délétion du chromosome 22q11 /
MALADIES
Maladies du système immunitaire