Gibson L H, McGrath J, Yang-Feng T L
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
Am J Med Genet. 1997 Feb 11;68(4):417-20.
A newborn infant with multiple congenital anomalies was diagnosed with an unbalanced translocation of chromosomes 1 and 5. Studies of parental chromosomes revealed a complex rearrangement in the patient's mother involving the exchange of terminal long arms between chromosomes 1 and 5 and the insertion of an interstitial segment from the same chromosome 5q into chromosome 2q by high-resolution G-banding. Further study of the mother's chromosomes by fluorescent in situ hybridization (FISH) detected an additional insertion between the rearranged chromosomes 2 and 5, which was not revealed by G-banding. This led to the identification of a complex translocation-insertion between 3 chromosomes with at least 5 breaks [t(1;5;2)(1pter--> 1q42.3::5q23.2-->5qter;5pter-->5q21.2:: 2q33--> 2q35::1q42.3-->1qter;2pter-->2q33::5q21 .2--> 5q23.2::2q35-->2qter)] and illustrates the value of FISH as an adjunct to standard cytogenetics, particularly in cases of complex rearrangements.
一名患有多种先天性异常的新生儿被诊断为1号和5号染色体不平衡易位。对其父母染色体的研究显示，通过高分辨率G显带技术，患者母亲存在复杂的重排，涉及1号和5号染色体末端长臂的交换以及5号染色体q臂的一个中间片段插入到2号染色体q臂。通过荧光原位杂交（FISH）对母亲染色体进行进一步研究，检测到重排的2号和5号染色体之间存在额外的插入，这是G显带未显示的。这导致识别出三条染色体之间的复杂易位-插入，至少有5个断裂点[t(1;5;2)(1pter→1q42.3::5q23.2→5qter;5pter→5q21.2::2q33→2q35::1q42.3→1qter;2pter→2q33::5q21.2→5q23.2::2q35→2qter)]，并说明了FISH作为标准细胞遗传学辅助手段的价值，特别是在复杂重排的病例中。
