Book your appointment online

What is a translocation?

Translocations refer to a specific kind of chromosomal structural change. This chromosomal anomaly can be classified mainly into two types: reciprocal (or non-Robertsonian) and Robertsonian, with reciprocal translocations being the more frequently observed type. In a reciprocal translocation, distinct segments from two separate chromosomes interchange positions. For instance, considering chromosomes 13 and 21, a segment of chromosome 13 switches place with a segment of chromosome 21. This results in each chromosome carrying a part of the other. If such a swap of chromosome pieces is balanced, the overall genetic material remains intact, merely redistributed to different locations. Conversely, an unbalanced translocation occurs when this exchange is unequal, leading to a genetic imbalance due to the presence of extra or missing genes. This can have various implications for the individual’s health and development, depending on the nature and extent of the genetic disruption. Understanding these translocations is crucial in genetics and medicine, as they can be a key factor in diagnosing and researching genetic disorders.

Reciprocal (non-Robertsonian) translocations

Reciprocal, also known as non-Robertsonian, translocations are chromosomal alterations identified in approximately 1 out of every 600 newborns. In cases of balanced reciprocal translocations, the individuals generally show no adverse effects and are considered carriers. However, being a carrier of such balanced translocations comes with a heightened risk of conceiving embryos with unbalanced chromosomal configurations. Unbalanced chromosome translocations are significant because they can result in miscarriages or the birth of children with various congenital anomalies. It’s important to note that the presence of a balanced translocation in a parent may not manifest in any health issues for them, but it can have profound implications for their offspring’s genetic health. This aspect of genetics is critical in prenatal diagnostics and genetic counseling, as understanding these translocations can help in assessing risks and managing expectations for affected families.

Robertsonian translocations

Robertsonian translocations represent a unique chromosomal rearrangement where two chromosomes fuse, resulting in a larger single chromosome. Individuals with this translocation typically possess 45 chromosomes instead of the usual 46. This phenomenon occurs in about 1 in 1300 newborns. Although carriers of Robertsonian translocations may not exhibit any personal health issues, they face an increased likelihood of producing embryos with unbalanced chromosomal arrangements. Such imbalances can lead to miscarriages or birth defects in offspring.

When a couple, where one partner has a Robertsonian translocation, conceives, several outcomes are possible:

  1. The embryo might inherit a completely normal set of chromosomes.
  2. The embryo could receive a balanced amount of chromosome material, mirroring the carrier parent. In this scenario, the embryo becomes a carrier of the translocation without necessarily showing any health issues.
  3. The embryo might have an unbalanced chromosomal composition. Embryos with such imbalances, akin to aneuploidies (abnormal chromosome numbers), are often miscarried.

Understanding these outcomes is crucial for genetic counseling, as it helps in evaluating the reproductive risks for couples with a history of Robertsonian translocations. This knowledge is instrumental in guiding them through family planning and potential interventions.

Detecting Translocations with PGD

When one partner in a couple carries a chromosomal translocation, they often face challenges such as recurrent miscarriages. The diagnostic process typically involves chromosome analysis for both partners, which can reveal the presence of the translocation.

Upon identifying the translocation, couples have several options: continue trying for natural conception, consider using donor eggs or sperm (depending on which partner carries the translocation), or explore Preimplantation Genetic Diagnosis (PGD). If PGD is chosen, blood from the affected partner is taken to precisely characterize the translocation.

The PGD process employs specialized fluorescent probes that can bind to entire chromosomes. For instance, in the case of a translocation between chromosomes 4 and 11, separate whole chromosome probes for each chromosome are used, each labeled with a distinct color for easy identification. When an embryo is created via In Vitro Fertilization (IVF), a polar body or a blastomere (sometimes both) is extracted for analysis. The developmental stage of these cells is crucial for the success of the process. In the lab, the probes are applied to these biopsied cells. A chromosome displaying a normal structure will be highlighted in one color, while a translocated chromosome will exhibit two colors.

This technique allows for the identification of embryos free from translocations, which can then be selected for transfer into the uterus, increasing the chances of a successful pregnancy. PGD provides a significant advancement in reproductive genetics, offering hope to couples at risk of chromosomal abnormalities in their offspring.