Is robertsonian a translocation?
Is robertsonian a translocation?
Robertsonian translocations are a specific class of translocations in which two acrocentric chromosomes fuse at their centric ends (45). In humans, chromosomes 13, 14, 15, 21, and 22 are acrocentric, and all of these chromosomes are associated with Robertsonian translocations.
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).
Is Edwards Syndrome genetic?
Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition.
Can Robertsonian translocation be de novo?
Robertsonian translocations are the most frequent balanced translocations in humans. Most de novo Robertsonian translocations arise during oogenesis and have breakpoints within a consistent region [Bandyopadhyay et al., 2002].
What chromosomes are acrocentric?
In humans, chromosomes 13, 14, 15, 21, and 22 are acrocentric, and all of these chromosomes are associated with Robertsonian translocations.
What is Robertsonian translocation?
[W.R.B. Robertson, U.S. geneticist.] W.R.B., U.S. geneticist, 1881–. robertsonian translocation – translocation in which the centromeres of two acrocentric chromosomes appear to have fused, forming an abnormal chromosome. Synonym (s): centric fusion Want to thank TFD for its existence?
What is the phenotype of a carrier of balanced Robertsonian translocation?
A carrier of a balanced robertsonian translocation has only 45 chromosomes but near normal chromosomal complement and a clinically normal phenotype; however, he or she is at risk of having a child with unbalanced chromosomal complement. A person with an unbalanced robertsonian translocation is trisomic for the long arm of the chromosome.
What is Robertsonian variation in mice?
Robertsonian variation is studied in many wild and domestic mammals, particularly mice and shrews. The rate of chromosomal evolution in both species is high. The known distribution of Robertsonian races in the mouse stretches from North Africa to Scotland but is concentrated in mountainous regions around Switzerland,…
Can Down syndrome be caused by Robertsonian translocation?
However, the progeny of this carrier may inherit an unbalanced trisomy 21, causing Down syndrome . About one in a thousand newborns have a Robertsonian translocation.