Lurie I W, Wulfsberg E A, Prabhakar G, Rosenblum-Vos L S, Supovitz K R, Cohen M M
Department of Pediatrics and Obstetrics, School of Medicine, University of Maryland at Baltimore.
Clin Genet. 1994 Sep;46(3):244-7. doi: 10.1111/j.1399-0004.1994.tb04234.x.
Cytogenetic study of a 3-year-old girl with developmental delay and some minor abnormalities revealed a complex chromosome rearrangement (CCR) involving seven chromosomes with eight breakpoints, leading to monosomy of segment 5q15-q22. According to breakpoint distribution, CCRs may be classified as those with primary intrachromosomal abnormalities (including inversions, insertions, duplications, etc.) and those without them. Only the latter group of CCRs was used in this analysis. Comparison of theoretical and observed breakpoint distributions in 33 cases demonstrated that recurrent involvement of some chromosome(s) ("re-entry") occurs more frequently than expected. One possible explanation for this observation suggests that the initial event leads to an unstable provisional rearrangement, and subsequent breaks are necessary to stabilize the karyotype.
对一名患有发育迟缓及一些轻微异常的3岁女孩进行的细胞遗传学研究显示，存在一种复杂染色体重排（CCR），涉及7条染色体及8个断点，导致5q15 - q22节段单体性。根据断点分布，CCR可分为原发性染色体内异常（包括倒位、插入、重复等）的类型和无此类异常的类型。本分析仅采用后一组CCR。对33例病例的理论断点分布与观察到的断点分布进行比较表明，某些染色体的反复受累（“重新进入”）出现的频率高于预期。对此观察结果的一种可能解释是，初始事件导致了不稳定的临时重排，随后的断裂对于稳定核型是必要的。
