Froster-Iskenius U G, Hayden M R, Wang H S, Kalousek D K, Horsman D, Pfeiffer R A, Schottky A, Schwinger E
Am J Hum Genet. 1986 May;38(5):759-67.
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.
我们报告了一个家族的临床和细胞遗传学研究结果，在这个家族中，4号染色体长臂与5号染色体短臂之间的平衡易位在两代人中与亨廷顿病一起分离。原位杂交研究显示，连锁的人类DNA标记位于正常和易位的4号染色体短臂上的4p16区域。在这个家族中，亨廷顿病与易位之间的关联可能是偶然发生的。然而，也有可能在4号染色体上存在未被检测到的DNA重排，涉及亨廷顿病基因，但不影响连锁标记的位点。最后，不能排除这代表基因异质性的可能性。
