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Another form of leukemia, acute myeloid leukemia, has been associated with a translocation between chromosomes 8 and 21. In a small percentage of cases, Down syndrome is caused by a rearrangement of chromosomal material between chromosome 21 and another chromosome. As a result, a person has the usual two copies of chromosome 21, plus extra ...
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. For example, carriers of Robertsonian translocations involving chromosome 21 have a higher risk of having a child with Down syndrome. This is known as a ...
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). The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15. [2]
Chromosome 21 from Human Genome Program Normal human Karyotype. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations).
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).
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation , t(9;22)(q34;q11), of genetic material between chromosome 9 and ...
Erondu–Cymet syndrome is a syndrome caused by a translocation on the 21st chromosome. [1] The genetic karyotype for people with this condition is 46, XY, inv(21)(q11.2q22.1). Findings in these patients include hypotension, hypoxemia, seizures, and impairment of cognitive ability. [1]
Chromosomal translocations involving the RUNX1 gene are associated with several types of leukemia including M2 AML. [9] ... and is located on chromosome 21 (21q22.12).