What is a balanced Robertsonian translocation?

Balanced reciprocal and Robertsonian translocations are found to be one of the most common chromosomal rearrangements. Balanced translocations impede the normal chromosome pairing and segregation at meiosis phase–I, leading to the formation of unbalanced gametes, consequently causing unbalanced abnormal children.

Can you have a balanced Robertsonian translocation?

In a Robertsonian translocation, the short arms of two of these chromosomes are lost and the remaining long arms join together. As the short arms of these chromosomes do not contain important genetic information, this translocation is described as balanced and has no effect on a person’s health.

What is the chance of a father with a Robertsonian translocation?

As no gain or loss of important genetic material occurs, Robertsonian translocation carriers are normal. Incidence in general population is approximately 1 in 1000, the commonest being fusion between chromosome 13 and 14.

What is a Robertsonian translocation carrier?

A Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. Out of every 1,000 newborn babies, one has a Robertsonian translocation. The phrase Robertsonian translocation is too long for normal conversation and many people shorten it to rob.

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.

How common is Robertsonian translocation Down syndrome?

Downs syndrome (DS) occurs due to an extra copy of chromosome 21. About 3% of cases of Downs syndrome occur due to Robertsonian translocation, most commonly t (14; 21), other types of translocations are very rare cause of the syndrome.

How rare is Robertsonian translocation?

Robertsonian translocations, fusions between two acrocentric chromosomes, are the most common structural chromosomal rearrangements in humans and occur in approximately 1 in every 1000 newborns [1].

Can you live with trisomy 13?

It is hard to predict how long a child with Trisomy 13 will live. Half of babies born with Trisomy 13 live longer than two weeks and fewer than 10% will survive the first year of life. Approximately 13% survive until 10 years of age.

Can you have a healthy baby with balanced translocation?

Natural conception and live birth is possible in cases of balanced translocation, but those with the condition may have more difficulty conceiving and are at a greater risk of recurrent miscarriage than those without it.