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The former results in a chromosomal abnormality featured in all cells of the offspring, as in translocation carriers. Somatic translocations, on the other hand, result in abnormalities featured only in the affected cell and its progenitors, as in chronic myelogenous leukemia with the Philadelphia chromosome translocation.
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample ). [2]
[8] Deletions are responsible for an array of genetic disorders, including some cases of male infertility, two thirds of cases of Duchenne muscular dystrophy, [1] and two thirds of cases of cystic fibrosis (those caused by ΔF508). [9] Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. [1]
Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis).This can result in extra chromosomes in a sperm or egg cell.
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome.The syndrome is associated with epileptic seizures, behaviour disorders and intellectual disability.
If the direction of derivative is not repeated, it is called a mixed partial derivative. If all mixed second order partial derivatives are continuous at a point (or on a set), f is termed a C 2 function at that point (or on that set); in this case, the partial derivatives can be exchanged by Clairaut's theorem:
Most occurrences of UPD result in no phenotypical anomalies. However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders.