Souto Filho JTD, et al. - Researchers sought to present a case of a girl with Bernard–Soulier syndrome (BSS). BSS was noted to be associated with clinical features of 22q11.2 deletion syndrome (22q11.2DS) with phenotypic spectrum of DiGeorge syndrome/velocardiofacial syndrome in this girl. A history of life-long bleeding tendency, tetralogy of Fallot, hypothyroidism, mild facial dysmorphic signs and macrothrombocytopenia were reported in this case. The fact that the constitutional hemizygosity of 22q11.2 may unmask an autosomal recessive disorder caused by alterations of the nondeleted GPIbβ allele may explain the link between BBS and 22q11.2DS. They recommend always testing patients with 22q11.2DS and bleeding manifestations for BSS.