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RESEARCH PRODUCT
Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome
Oliver BartschRuth MikelsaarHarras MolderMargus Punabsubject
AdultMaleEye DiseasesLRP1BG bandingChromosomal translocationBiologyTranslocation GeneticDNA sequencingmedicineHumansPigment Epithelium of EyeGeneIn Situ Hybridization FluorescenceGenetics (clinical)Sequence DeletionGeneticsChromosomes Human Pair 15Chromosomes Human Pair 10BreakpointNucleic Acid Hybridizationmedicine.diseaseMolecular biologyOphthalmologyPediatrics Perinatology and Child HealthPigment dispersion syndromeFish <Actinopterygii>Retinal Pigmentsdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2007-12-29 | Ophthalmic Genetics |