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Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease |
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| Authors: | Dr Elina Ikonen Armi Salo Mirja Somer Hannu Somer Leena Pääkkönen Leena Peltonen |
| Institution: | 1. United Laboratories Ltd, Finland;2. Department of Medical Genetics, University of Helsinki, Helsink, Finlandi;3. Department of Neurology, University of Helsinki, Helsinki, Finland;4. Department of Pediatrics, University of Kuopio, Kuopio, Finland;5. Laboratory of Molecular Genetics, National Public Health Institute, Finland |
| Abstract: | A 15-year-old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf-Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus. © 1992 Wiley-Liss, Inc. |
| Keywords: | Wolf-Hirschhorn syndrome Huntington disease 4p deletion gene mapping |