Simplified diagram of the extended pedigree identified by the previously reported proband (denoted by arrow).22 Individuals within each generation (I-VII) are numbered consecutively from left to right (eg, proband is individual VII-10). Squares and circles represent males and females, respectively. Partially filled symbols represent individuals that carry a single copy of the null PAI-1 allele (heterozygotes). Completely filled symbols represent individuals that carry two copies of the null allele and are completely PAI-1 deficient (homozygous affected). Individuals known to be deceased are denoted by a slash mark. Living individuals not genotyped are denoted by an asterisk. Diamonds represent the indicated number of siblings.