Can people with Robertsonian translocation have children?
Many people with Robertsonian translocation have healthy children. The condition can, however, impact on their chances of having a family. Women with the translocation may find it difficult to get pregnant. They also have a higher chance of having a miscarriage than those without Robertsonian translocation.
What is a robertsonian balanced translocation?
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.
What does Robertsonian translocation do?
A Robertsonian translocation effects acrocentric chromosomes. In an acrocentric chromosome, the narrow region where both halves of the chromosome join is near the very end of the chromosome. In a Robertsonian translocation, acrocentric chromosomes fuse together. This fusing joins two “long arms” of DNA into one.
Is Robertsonian translocation bad?
A person with a Robertsonian translocation has an increased risk of miscarriage for each pregnancy and an increased risk of the baby being born with a disability.
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.
How common 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].
How is Robertsonian translocation detected?
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 difference between translocation and Robertsonian translocation?
In a reciprocal translocation, two different chromosomes have exchanged segments with each other. In a Robertsonian translocation, an entire chromosome attaches to another at the centromere.
Does Robertsonian translocation cause infertility?
Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal semen analysis. Some patients have positive sperms in the ejaculate. Therefore, fertility management can be offered to couples to achieve pregnancy and delivery of healthy neonates.
What is the risk of Down syndrome if mother or father carries Robertsonian translocation?
The observed figures for Robertsonian translocation carriers involving chromosome 21 having a live born baby with Down syndrome are 10% if the mother is the translocation carrier, and 2.5% if the father is the translocation carrier.
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.
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.
What type of chromosomal abnormality is Robertsonian translocation?
Robertsonian translocations (RTs) are the most common recurrent constitutional chromosomal aberrations in humans, with an incidence of ~1/1000 individuals. They are most often formed by centric or short arm fusion between two different acrocentric chromosomes (13–15 or 21–22) or rarely, two acrocentric homologs.
What is Robertsonian translocation?
Robertsonian translocation ( ROB) is a chromosomal abnormality wherein a certain type of a chromosome becomes attached to another. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born.
How many Robertsonian translocations in a boy with mental retardation?
Two Robertsonian translocations in a boy with mental retardation. J Med Genet. 1982;19: 229–232. [PMC free article][PubMed] [Google Scholar]
How can I improve my chances of pregnancy with Robertsonian translocation?
Speak with your doctor if you suspect or know that you have a Robertsonian translocation. Genetic counseling, breakthroughs in research, and clinical trials can all increase your odds of having successful pregnancies.
Can Robertsonian translocation cause trisomy 14?
A Robertsonian translocation can result in trisomy 14 or trisomy 21. Trisomy 21 is also known as Down syndrome. Down syndrome is the world’s most common genetic disorder. If your Robertsonian translocation fuses another chromosome with chromosome 21, you may be genetically more predisposed to have a baby with Down syndrome.