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Updated: Jul 8, 2026
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Two novel deletions (array CGH findings) in pigment dispersion syndrome
Ruth Mikelsaar1, Harras Molder, Oliver Bartsch
1Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ruth.mikelsaar@ut.ee
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.
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