PURPOSE: We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1). METHODS: Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed. RESULTS: Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1. CONCLUSION: We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.
PURPOSE: We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1). METHODS: Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed. RESULTS: Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1. CONCLUSION: We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.
Authors: Adam C Naj; William K Scott; Monique D Courtenay; William H Cade; Stephen G Schwartz; Jaclyn L Kovach; Anita Agarwal; Gaofeng Wang; Jonathan L Haines; Margaret A Pericak-Vance Journal: Ann Hum Genet Date: 2013-05 Impact factor: 1.670