Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease
Corresponding Author
Dr. Elina Ikonen
Laboratory of Molecular Genetics, National Public Health Institute, Finland
National Public Health Institute, Laboratory of Molecular Genetics, Mannerheimintie 166, SF-00300 Helsinki, FinlandSearch for more papers by this authorMirja Somer
Department of Medical Genetics, University of Helsinki, Helsink, Finlandi
Search for more papers by this authorHannu Somer
Department of Neurology, University of Helsinki, Helsinki, Finland
Search for more papers by this authorLeena Pääkkönen
Department of Pediatrics, University of Kuopio, Kuopio, Finland
Search for more papers by this authorLeena Peltonen
Laboratory of Molecular Genetics, National Public Health Institute, Finland
Search for more papers by this authorCorresponding Author
Dr. Elina Ikonen
Laboratory of Molecular Genetics, National Public Health Institute, Finland
National Public Health Institute, Laboratory of Molecular Genetics, Mannerheimintie 166, SF-00300 Helsinki, FinlandSearch for more papers by this authorMirja Somer
Department of Medical Genetics, University of Helsinki, Helsink, Finlandi
Search for more papers by this authorHannu Somer
Department of Neurology, University of Helsinki, Helsinki, Finland
Search for more papers by this authorLeena Pääkkönen
Department of Pediatrics, University of Kuopio, Kuopio, Finland
Search for more papers by this authorLeena Peltonen
Laboratory of Molecular Genetics, National Public Health Institute, Finland
Search for more papers by this authorAbstract
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.
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