Find a disease that is caused by chromosomal mutations

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Research and find a disease that is caused by chromosomal mutations. When does the mutation occur? What chromosomes are affected? What are the consequences?

The human body has 23 pairs of chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes. This gives humans 46 chromosomes in total. Chromosomal genetic disorders occur when chromosomes are partially or completely missing, altered or duplicated. An example of a chromosomal genetic disorder is Down syndrome.

Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person. This extra chromosome results in extra protein production and upsets the body's balanced systems. During pregnancy chromosomal abnormalities can cause the death of an embryo or fetus. Chromosomal disorders can result in mental retardation or other developmental problems. Older pregnant women have a higher risk of passing on chromosomal genetic disorders.

Reference no: EM13937704

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