Two novel deletions (array CGH findings) in pigment dispersion syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Mikelsaar
Ruth
R
Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ruth.mikelsaar@ut.ee
Molder
Harras
H
Bartsch
Oliver
O
Punab
Margus
M
D000328:Adult; D002879:Chromosomes, Human, Pair 10; D002884:Chromosomes, Human, Pair 15; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009693:Nucleic Acid Hybridization; D010857:Pigment Epithelium of Eye / Q000378:metabolism / Q000473:pathology*; D012168:Retinal Pigments / Q000378:metabolism*; D017384:Sequence Deletion; D014178:Translocation, Genetic
D012168:Retinal Pigments