What syndrome is caused by translocation?
What syndrome is caused by translocation?
Translocation Down syndrome refers to the type of Down syndrome that is caused by rearranged chromosome material. In this case, there are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate.
What is Robertsonian translocation give example?
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.
Can you get pregnant with Robertsonian translocation?
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.
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].
How common is chromosomal translocation?
Balanced translocations are frequent structural chromosomal rearrangements observed in humans where two different chromosomes exchange their segments. Studies show that population frequency rates are between 1/673 and 1/1000.
Can Robertsonian translocation cause Down’s 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.
Can you have a baby if you have 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.