What is the life expectancy of Robertsonian translocation?
They live normal, healthy lives, though they may have concerns when starting a family. In some cases, Robertsonian translocation can result in a congenital genetic disorder, such as trisomy 13 or Down syndrome.
What is Robertsonian translocation Down syndrome?
The Robertsonian translocation is unbalanced and the baby has three copies of the long arm of chromosome 21 instead of two. This causes a type of Down’s syndrome called translocation Down’s syndrome. The effects on the baby are exactly the same as when Down’s syndrome is caused by having an extra entire chromosome 21.
How many chromosomes are there in cells of carriers of Robertsonian translocation involving 14 and 21 chromosomes?
Robertsonian Translocations There are six acrocentric chromosomes in the human genome: 13, 14, 15, 21, 22, and the Y chromosome. A Robertsonian event usually results in a genetic complement of 45 chromosomes due to the fusion of two long (q) chromosome arms and the loss of the corresponding two short arms.
How is Robertsonian translocation diagnosed?
Robertsonian translocation type trisomy 13 can be detected by prenatal diagnosis technology, which inclue molecular cytogenetics and traditional karyotype analysis. Different diagnosis technologies have to be clearly distinguished and correctly applied.
What is the outcome of Robertsonian translocation?
A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost—and the person is completely normal in spite of the translocation.
What causes a Robertsonian translocation?
What are the symptoms of Robertsonian translocation?
In most cases , there are no symptoms or visible signs of a Robertsonian translocation. Depending on where in your DNA the translocation occurs, it’s very likely that you won’t experience any side effects of your DNA chain being atypical.
How many chromosomes are in the Robertsonian translocation?
Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic material is present, and they appear normal.
What is the most common Robertsonian translocation?
The most common Robertsonian translocation is between chromosomes 13 and 14. This D/D translocation makes up ~75% of all Robertsonians (Gardner and Sutherland, 1996).
Where does the break occur in a Robertsonian translocation?
robertsonian translocation. [rob′ərtsō′nē·ən] the exchange of entire chromosome arms, with the break occurring at the centromere, usually between two nonhomologous acrocentric chromosomes. It produces one large, metacentric chromosome and one extremely small chromosome.
How many chromosomes does a person with a Robertsonian translocation have?
A carrier of a balanced robertsonian translocation has only 45 chromosomes but near normal chromosomal complement and a clinically normal phenotype; however, he or she is at risk of having a child with unbalanced chromosomal complement. A person with an unbalanced robertsonian translocation is trisomic for the long arm of the chromosome.
Which is the best definition of reciprocal translocation?
reciprocal translocation the mutual exchange of fragments between two broken chromosomes, one part of one uniting with part of the other. robertsonian translocation that in which the breaks occur at the centromeres and entire chromosome arms are exchanged, usually involving two acrocentric chromosomes.