Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.

: Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder caused by a defective function of glycoprotein (GP) Ib-V-IX complex. Among the genes encoding the 4 receptor subunits (GPIbα, GPIbβ, GPV and GPIX), the GPIbβ gene is located on chromosomes 22q11.2.