What syndrome is the result of a Robertsonian translocation between chromosomes 14 and 21?
A Robertsonian translocation can result in trisomy 14 or trisomy 21. Trisomy 21 is also known as Down syndrome.
Is trisomy 21 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 a 21 21 Robertsonian translocation?
Robertsonian translocation t (21; 21), can occur by transmission from carrier parent, due to ovarian mosaicism for Robertsonian translocation or may appear de novo. In the present case as the parents had normal karyotype and siblings were phenotypically normal, Robertsonian translocation probably have arisen de novo.
What does Robertsonian translocation cause?
In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome).
When does a Robertsonian translocation take place?
A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost.
What kind of genetic disorders can be caused by Robertsonian translocation?
That said, in some cases, when Robertsonian translocation results in people having extra genetic material in their bodies, the translocation can lead to genetic disorders. These include the following: Around 1 in 16,000 babies are born with trisomy 13. It is also called Patau syndrome.
Can a person with Robertson translocation have Down syndrome?
Most people with Robertson translocation do not know they have it. 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.