Figure 2.

Family pedigrees of probands with 15q13.3 microdeletions showing only partial segregation with affected status. Family 1 is Turkish and Families 2–7 are Australian. Three microdeletions arose de novo in the proband in three families (1, 2 and 5), two were inherited (4 and 7) and in two families the parents of the proband were not available for study (3 and 6). Transmission of the microdeletion occurred in four families (3, 4, 6 and 7) and in all cases at least one unaffected individual carries the microdeletion. Four families have multiple individuals affected with IGE (2, 3, 4 and 5) and in one family (4) the microdeletion is present in all affected members of the family. Overall 8/12 subjects with the deletion are affected while 8/12 of those affected with IGE have the microdeletion. nl: signifies subjects who have been tested and who do not have the 15q13.3 microdeletion.