Worsham M J, Miller D A, Devries J M, Mitchell A R, Babu V R, Surli V, Weiss L, Van Dyke D L
Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, MI 48202.
Am J Hum Genet. 1989 Jan;44(1):115-23.
A 4-year-old girl with multiple malformations and severe developmental delay has been shown to have a karyotype of 46,XX-9,+rec(9),dup p,inv(9) (q22.1q34.3)mat, with duplication 9pter-q22.1 and deficiency 9q34.3-qter. This case confirms that a stable recombinant chromosome can result from a paracentric inversion. The recombinant was derived by two crossovers, one within the inversion loop and a second outside the inversion loop, between 9q21 and the beginning of the meiotic inversion at 9q22.1. In 87 cells the rec(9) had one Cd-positive primary constriction. In 13 cells the rec(9) had two primary constrictions; in 12 of these cells there was one Cd-positive centromere, and in one of these cells both primary constrictions were Cd-positive. Nuclear projections were observed in 10% of fibroblast interphase cells harvested in situ, suggesting that there was some spindle-fiber activity of the "latent" centromere. In situ hybridization with a centromere-specific probe (p82H) and a satellite III probe (L6) revealed no differences between the two C-band regions of the rec(9) and the normal 9 or inverted 9 chromosomes.
一名患有多种畸形和严重发育迟缓的4岁女孩，其核型显示为46,XX - 9,+rec(9),dup p,inv(9)(q22.1q34.3)mat，即9号染色体短臂pter - q22.1重复，9号染色体长臂q34.3 - qter缺失。该病例证实，臂内倒位可产生稳定的重组染色体。该重组体由两次交换产生，一次发生在倒位环内，另一次发生在倒位环外，位于9号染色体长臂q21和减数分裂倒位起始点9q22.1之间。在87个细胞中，rec(9)有一个着丝粒蛋白（Cd）阳性的主缢痕。在13个细胞中，rec(9)有两个主缢痕；其中12个细胞有一个Cd阳性的着丝粒，另一个细胞的两个主缢痕均为Cd阳性。在原位收获的成纤维细胞间期细胞中，10%观察到核突出，提示“潜在”着丝粒存在一些纺锤体纤维活性。用着丝粒特异性探针（p82H）和卫星III探针（L6）进行原位杂交，结果显示rec(9)的两个C带区域与正常9号染色体或倒位9号染色体之间无差异。
