Batanian J R, Eswara M S
Department of Pediatrics, Health Sciences Center, St. Louis University School of Medicine, Missouri, USA.
Am J Med Genet. 1998 Jun 16;78(1):44-51.
We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement and showed the derivative 21 to be composed of 3 distinct segments derived from chromosomes 21, 18, and 4. The derivative chromosome 18 had undergone a double translocation, the first such event to be described in constitutional complex chromosomal rearrangements (CCRs) involving chromosome 18. A review of these CCRs suggests the existence of a breakpoint "hot spot" on 18q21.
我们描述了一名因疑似脆性X综合征而接受评估的患者，其存在一种复杂且独特的、涉及4号、18号和21号染色体且有4个断点的新发明显平衡易位。荧光原位杂交（FISH）证实了重排的复杂性，并显示衍生的21号染色体由来自21号、18号和4号染色体的3个不同片段组成。衍生的18号染色体发生了双重易位，这是涉及18号染色体的染色体组复杂染色体重排（CCR）中首次描述的此类事件。对这些CCR的回顾表明，18q21上存在一个断点“热点”。
