A family with Huntington disease and reciprocal translocation 4;5.
We report the clinical and cytogenetic findings in a family in which a balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 5 is segregating together with Huntington disease in 2 generations. In situ hybridization studies revealed that the linked human DNA marker is located on the short arm of the normal and translocated chromosome 4 in the region 4p16. The association between Huntington disease and the translocation in this family may represent a chance occurrence. However, it is also possible that there is an undetected rearrangement of DNA on chromosome 4 involving the gene for Huntington disease but not affecting the site of the linked marker. Finally, the likelihood that this represents heterogeneity cannot be excluded.
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D014178:Translocation, Genetic