When the genetic counsellor explains the structural changes in chromosomes that result from breakage and rearrangement of chromosome parts, the pattern that occurs when there are simultaneous breaks in two chromosomes, from different pairs, with exchange of chromosome parts is <u>translocation</u>.
When two distinct chromosomes experience a double break and exchange fragments, translocations—structural chromosome abnormalities—occur. There are two different forms of translocations: reciprocal and Robertsonian.
Breaking and exchanging distal portions between nonhomologous chromosomes results in reciprocal translocations. In both the general population and neonates, balanced reciprocal translocations occur about 0.14% of the time. When two acrocentric chromosomes (chromosomes 13, 14, 15, 21, and 22) fuse and lose their short arms, a translocation known as a Robertsonian translocation results. Their prevalence in the population is 0.12%, and the fusion of chromosomes 13 and 14 is the most frequent variant.
When a segment of one chromosome separates and joins another chromosome, the process is known as a translocation. If there is neither genetic material gain nor loss in the cell, this form of rearrangement is referred to as balanced. A translocation is referred to as imbalanced if genetic material is gained or lost.
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