Van Der Burgt C J, Merkx G F, Janssen A H, Mulder J C, Suijkerbuijk R F, Smeets D F
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
J Med Genet. 1992 Oct;29(10):739-41. doi: 10.1136/jmg.29.10.739.
A balanced complex chromosome rearrangement (CCR) involving four chromosomes is very rare and may lead to different types of aneuploid germ cells. We report a liveborn child with multiple congenital anomalies and an apparently balanced translocation, t(11;12). High resolution chromosome analysis in the mother showed a CCR involving chromosomes 5, 11, 12, and 16. In situ hybridisation showed that this CCR was the result of a five break rearrangement, and that the derivative chromosome 12 consisted of parts of chromosomes 5, 11, and 12. From this it could be deduced that the karyotype of the child was not balanced, but resulted in partial trisomy for 5q and partial monosomy for 12p. The clinical findings in the child were compatible with partial trisomy for 5q.
一种涉及四条染色体的平衡型复杂染色体重排（CCR）非常罕见，可能会导致不同类型的非整倍体生殖细胞。我们报告了一名患有多种先天性异常且有明显平衡易位t(11;12)的活产儿。对母亲进行的高分辨率染色体分析显示存在一种涉及5号、11号、12号和16号染色体的CCR。原位杂交表明，这种CCR是一次五断点重排的结果，并且衍生的12号染色体由5号、11号和12号染色体的部分组成。由此可以推断，患儿的核型并非平衡型，而是导致了5q部分三体和12p部分单体。患儿的临床发现与5q部分三体相符。
