Familial absent pulmonary valve syndrome without deletions of chromosome 22q11

Deletions of chromosome 22q11 are common in patients with tetralogy of Fall ot, and in those with absent pulmonary valve syndrome. In this report, we d escribe a pair of siblings with absent pulmonary valve syndrome, neither of whom had deletions of chromosome 22q11. The finding of familial absent pul monary valve syndrome without deletion of 22q11 in our patients suggests an alternative genetic basis for this rare condition.