What is the chance of a father with a Robertsonian translocation?
Of note, if it involves chromosomes 13 and 21, there is also a 10-15% risk to have a baby with translocation Down syndrome (caused by an extra copy of chromosome 21). However, a father who is a Robertsonian translocation carrier has a less than 1% risk of a child being affected.
Can IVF help with balanced translocation?
IVF-PGD is a treatment option often used for individuals with balanced translocations in an effort to improve the likelihood of achieving a healthy pregnancy 3, 4 while maintaining a genetic link to both parents.
What is the outcome of a 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.
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 .
Is Robertsonian translocation balanced?
In balanced form, a Robertsonian translocation takes the place of two acrocentric chromosomes and results in no problems for the person carrying it. But in unbalanced form, Robertsonian translocations produce chromosome imbalance and cause syndrome of multiple malformations and mental retardation.
Is there a cure for Robertsonian translocation?
In most cases, Robertsonian translocation does not cause any health problems or require treatment. People who carry the abnormality, however, may pass it on to their children. Aspiring parents may wish to seek genetic counseling before starting a family.
Is Robertsonian translocation a trisomy?
A trisomy is a genetic alteration in which there is an extra copy of a chromosome in a DNA strand, throwing the chain off balance. A Robertsonian translocation can result in trisomy 14 or trisomy 21. Trisomy 21 is also known as Down syndrome.