Five-generation pedigrees. Black squares represent affected males with blue cone monochromacy (BCM). Retinal findings of these three subjects were reported previously (10) and are summarized in the Appendix S1. Slashes through symbols indicate deceased individuals; the arrows designate the probands P1, P2, and P3 in Families 1, 2, and 3, respectively. Hx, family history of vision problems among relatives on the grandmother’s side of the proband P2. The maternal grandfather of the proband P3 (half-filled square) – affected by hearsay; ID, brother (Family 1, IV-3) of the proband P1 with intellectual disability and BCM; *, confirmed deletion in Xq28. Previous molecular studies at another institution performed on all affected individuals (P1, P2, and P3) by multiple ligation-dependent probe amplification (MPLA) assay did not detect Xq28 deletions.