caa a22 4500 467983917 CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195820 doi (NATIONALLICENCE)springer-10.1007/BF00195820 Choroideremia associated with an X-autosomal translocation [Elektronische Daten] [Victoria Siu, John Gonder, Jack Jung, Frederick Sergovich, Wayne Flintoff] Summary: A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13 - 46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the DNA from this patient. To our knowledge this is the first report of a translocation associated with choroideremia. One of the translocation chromosomes, derivative 13, free of the derivative X and normal X, has been isolated in a somatic cell hybrid. Because of the clinical association of the eye findings with chromosome interchange, we suggest that the breakpoint on the X is at or near the choroideremia locus. Further analysis of this translocation may be useful in cloning the choroideremia gene. Springer-Verlag, 1990 Siu Victoria Regional Medical Genetics Centre, Department of Paediatrics, Children's Hospital of Western Ontario, N6A5C1, London, Ontario, Canada aut Gonder John Ivey Institute of Ophthalmology, University of Western Ontario, N6A5C1, London, Ontario, Canada aut Jung Jack Regional Medical Genetics Centre, Department of Paediatrics, Children's Hospital of Western Ontario, N6A5C1, London, Ontario, Canada aut Sergovich Frederick Regional Medical Genetics Centre, Department of Paediatrics, Children's Hospital of Western Ontario, N6A5C1, London, Ontario, Canada aut Flintoff Wayne Department of Microbiology and Immunology, University of Western Ontario, N6A 5C1, London, Ontario, Canada aut Human Genetics Springer-Verlag 84/5(1990-04-01), 459-464 0340-6717 84:5<459 1990 84 439 https://doi.org/10.1007/BF00195820 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195820 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Siu Victoria Regional Medical Genetics Centre, Department of Paediatrics, Children's Hospital of Western Ontario, N6A5C1, London, Ontario, Canada aut NATIONALLICENCE 700 1- Gonder John Ivey Institute of Ophthalmology, University of Western Ontario, N6A5C1, London, Ontario, Canada aut NATIONALLICENCE 700 1- Jung Jack Regional Medical Genetics Centre, Department of Paediatrics, Children's Hospital of Western Ontario, N6A5C1, London, Ontario, Canada aut NATIONALLICENCE 700 1- Sergovich Frederick Regional Medical Genetics Centre, Department of Paediatrics, Children's Hospital of Western Ontario, N6A5C1, London, Ontario, Canada aut NATIONALLICENCE 700 1- Flintoff Wayne Department of Microbiology and Immunology, University of Western Ontario, N6A 5C1, London, Ontario, Canada aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 459-464 0340-6717 84:5<459 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer