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The most common translocation in humans involves chromosomes 13 and 14 and is seen in about 0.97 / 1000 newborns. [6] Carriers of Robertsonian translocations are not associated with any phenotypic abnormalities, but there is a risk of unbalanced gametes that lead to miscarriages or abnormal offspring.
Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans, these only occur with chromosomes 13, 14, 15, 21, and 22. Rings: A portion of a chromosome has broken off and formed a circle or ring. This happens with or without the loss of genetic material.
A common human translocation involving c-myc is critical to the development of most cases of Burkitt lymphoma. [2] Constitutive upregulation of Myc genes have also been observed in carcinoma of the cervix, colon, breast, lung and stomach. [1] Myc is thus viewed as a promising target for anti-cancer drugs. [3]
A Robertsonian translocation. The short arms of the chromosomes (shown on right) are often lost . 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 ...
t(11;14) is a chromosomal translocation which essentially always involves the immunoglobulin heavy locus, also known as IGH in the q32 region of chromosome 14, as well as cyclin D1 which is located in the q13 of chromosome 11 . [2] Specifically, the translocation is at t(11;14)(q13;q32). [3] [4]
In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, [27] 45,X [28] and 47,XXX [29] in 1959. Even the much less common 48,XXYY [30] had been discovered in 1960, a year before 47,XYY.
The tip of the Y chromosome contains the SRY gene and, during recombination, a translocation occurs in which the SRY gene becomes part of the X chromosome. [15] [26] If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is ...
This involves the myc oncogene being translocated from chromosome 8 to the Ig kappa locus on chromosome 2. This type of translocation is seen in 15% of cases of Burkitt lymphoma. A rare variant is t(8;22)(q24;q11). [14] This type involves myc oncogene translocation from chromosome 8 to the Ig lambda locus on chromosome 22. This type of ...