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Robertsonian translocation (ROB) is a chromosomal abnormality where the entire long arms of two different chromosomes become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. [ 1 ]
The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation. The long arm of chromosome 21 is attached to the long arm of another chromosome, often chromosome 14 [46,XX,t(14;21)] or itself [called an isochromosome, 45,XX,t(21;21)(q10;q10)] as seen in the translocation karyotype figure.
William Rees Brebner Robertson (31 May 1881 - 15 March 1941) was an American zoologist and early cytogeneticist who discovered the chromosomal rearrangement named in his honour, Robertsonian translocation, the most common structural chromosomal abnormalities seen in humans that result in syndromes of multiple malformations, including trisomy 13 Patau syndrome and trisomy 21 Down syndrome.
Chromosomal reciprocal translocation of the 4th and 20th chromosome. In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation.
The extra chromosome 21 material may also occur due to a Robertsonian translocation in 2–4% of cases. [91] [101] In this translocation Down syndrome, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14. [102] In a male affected with Down syndrome, it results in a karyotype of 46XY,t(14q21q).
Robertsonian translocations are variations in the numbers of chromosomes that arise from either: the fusion of two acrocentric chromosomes into a single chromosome with two arms, causing a reduction in the haploid number, or conversely; or the fission of one chromosome into two acrocentric chromosomes, in this case increasing the haploid number ...
Robertsonian translocation, a chromosomal rearrangement in pairs 13, 14, 15, 21, and 22; Nonreciprocal translocation, transfer of genes from one chromosome to another; PEP group translocation, a method used by bacteria for sugar uptake; Twin-arginine translocation pathway, a protein export pathway found in plants, bacteria, and archaea
The resulting dicentric chromosomes are highly unstable, giving rise to chromosomal translocations, deletions and amplifications, such as the Robertsonian translocation. This results in broken, deleted gene products of dicentric fragments. [1]