We report a family with inherited Potocki-Shaffer syndrome. The phenotypically 
normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric 
marker chromosome formation. The marker chromosome contains the deleted material 
on 11p11.2 and is likely a ring. The patient inherited a maternal deleted 
chromosome 11 but not the marker chromosome, thus resulting in an unbalanced 
karyotype along with the phenotype of Potocki-Shaffer syndrome. The deleted 
region in our case-11p11.12p11.2-is a newly reported site of constitutional 
neocentromere formation. This is also the first report describing deletion of 
11p11.12-p11.2 and neocentromere formation resulting in inherited 
Potocki-Shaffer syndrome.