A family with Huntington disease and reciprocal translocation 4;5.
A family with Huntington disease and reciprocal translocation 4;5.
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患有亨廷顿病和相互易位的家庭 4;5。
DOI：
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发表时间：
1986
影响因子：
9.8
通讯作者：
E. Schwinger
中科院分区：
文献类型：
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作者：
U. Froster;M. Hayden;H. Wang;D. Kalousek;D. Horsman;R. Pfeiffer;A. Schottky;E. Schwinger
本文报告一个4号染色体长臂与5号染色体短臂平衡易位伴亨廷顿病家系的临床和细胞遗传学发现。原位杂交研究表明，连锁的人类DNA标记位于正常和易位的4号染色体的短臂上的区域4p16。亨廷顿病与该家族中的易位之间的关联可能是偶然发生的。然而，也有可能4号染色体上存在未检测到的DNA重排，涉及亨廷顿病基因，但不影响连锁标记的位点。最后，不能排除这代表异质性的可能性。
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.