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Chromosomal Translocations Power Point

Chromosomal translocations occur when chromosomes break and their fragments rejoin to other chromosomes. There are two main types: reciprocal translocations, where fragments are exchanged between non-homologous chromosomes, and Robertsonian translocations, which involve the fusion of two acrocentric chromosomes at the centromere. While balanced translocations usually do not affect phenotype, they can cause reduced fertility during meiosis due to problems with chromosome pairing and segregation. Unbalanced translocations are more likely to impact health.

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994 views7 pages

Chromosomal Translocations Power Point

Chromosomal translocations occur when chromosomes break and their fragments rejoin to other chromosomes. There are two main types: reciprocal translocations, where fragments are exchanged between non-homologous chromosomes, and Robertsonian translocations, which involve the fusion of two acrocentric chromosomes at the centromere. While balanced translocations usually do not affect phenotype, they can cause reduced fertility during meiosis due to problems with chromosome pairing and segregation. Unbalanced translocations are more likely to impact health.

Uploaded by

Ummu Amsyar
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© Attribution Non-Commercial (BY-NC)
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Chromosomal Translocations

Translocations are chromosomal abnormalities which occur when chromosomes break and the fragments rejoin to other chromosomes
. In general however, the problem with translocations occurs during meiosis and is manifest as reductions in fertility.

There are two types of translocations:

RECIPROCAL TRANSLOCATION
In a reciprocal translocation, two non-homologous chromosomes break and exchange fragments.

Individuals carrying such abnormalities still have a balanced complement of chromosomes and generally have a normal phenotype, but with varying degrees of subnormal fertility. The subfertility is caused by problems in chromosome pairing and segregation during meiosis.

Instead of having homologous chromosomes pair as bivalents, the translocation chromosomes and their homologs must form quadrivalents

The diagram above has been simplified considerably by ignoring the crossovers that occurred during meiosis. In a real testis or ovary, the fraction of gametes that are unbalanced would depend upon how crossingover and segregation occured, which is influenced by factors such as the site of the translocated segments.

Robertsonian translocations
About 1 in 1000 people in the general population have a Robertsonian translocation Robertsonian translocations only involve exchanges between chromosome numbers 13, 14, 15, 21 and 22.
The exchange involves loss of the short arms of two chromosomes and

fusion of the remaining two long arms a their centromeres


The result is one long chromosome that consists of two long arms of either The same numbered chromosome Two different chromosomes and containing either one or both centromeres There is therefore a loss of the short arm of the chromosomes. The loss of the genes that are located there, however, seems to have little or no effect on the health of the individual carrying a Robertsonian translocation

CENTRIC FUSION
A centric fusion is a translocation in which the centromeres of two acrocentric chromosomes fuse to generate one large metacentric chromosome. They are also often called Robertsonian translocations, although that term is used by purists to designate a very similar but distinct translocation in which one of the two centromeres is lost.

How do chromosome translocations occur?


Reciprocal translocations are nearly always spontaneous - occur during the formation of the egg or sperm or during or shortly after conception. -neither parent has the chromosomal change. -In some cases, however, one parent may have a balanced reciprocal translocation themselves that causes no problems for themselves but may cause problems in pregnancy or with the babys chromosomal make-up.

Robertsonian translocations between the two chromosomes of the same pair are very rare and almost always occur as a spontaneous event, during the formation of the egg or sperm or during or shortly after conception. No other individual in the family would have a similar chromosomal arrangement. Robertsonian translocations between two different chromosomes are much more common and can be passed on through the generations as either balanced or unbalanced rearrangements. The most common of these is between chromosome 13 and chromosome 14 (around 33% of all Robertsonian translocations

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