Explain a chromosome deletion and the effect it can have on a human.
A chromosome deletion occurs when part of a chromosome breaks off and does not reattach, resulting in the loss of one or more genes. For example, deletion of part of chromosome 22 can cause DiGeorge syndrome, which may cause cleft palate, immune deficiency, developmental issues, and learning difficulties.
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Explain a chromosome insertion and the effect it can have on a human.
An insertion is when a piece breaks off from one chromosome and attaches to another chromosome. If the inserted portion contains genes already present, then those genes can be duplicated. Fragile X syndrome is sometimes caused by expansion to about 700 repeats in the FMR1 gene; these individuals may have delays in crawling or walking, hyperactive or impulsive behavior, intellectual disability, flat feet, flexible joints and large body size.
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Explain how an unbalanced translocation occurs and how it affects humans.
An unbalanced translocation is a type of chromosomal abnormality in which the genetic material is rearranged such that some regions are duplicated or missing. This can occur when a child inherits chromosomes from a parent who carries a balanced translocation, resulting in the child having extra or missing genetic material, and different proportions of chromosome arms. There can also be Robertsonian translocations. Symptoms can include fertility issues, Down syndrome, birth defects of the heart and learning difficulties.
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Describe nondisjunction and the effect it can have on a human.
Nondisjunction is the failure of chromosomes to separate properly during meiosis. It can produce gametes with an abnormal number of chromosomes. For example, an extra X chromosome can cause Klinefelter syndrome (47,XXY), which may involve smaller testes, sterility, and taller stature with usually normal intelligence.
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