Familial and individual variation in chromosome fragility

An extremely high frequency of fra 6q26 (25%) was detected during a routine cytogenetic investigation of a 9-year-old girl. This prompted us to perform an extensive study of fragile site expression in her cells and those of her parents and sister. The very high frequency of fragility at 6q26 which had been discovered initially in the proband was not detected in the first repeat culture under the same experimental conditions. However, in the second repeat culture fragility at 6q26 was clearly present again. In the 4 members of this family fragile site expression was found to vary significantly between repeat samples from the same person. Also, a specific order of individual fragile site expression appeared to be present. This order was the same for the different culture conditions used.