Pathophysiology: Medical School Crash Course

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KEY TAKEAWAYS •

There are 22 pairs of autosomal genes and two sex-linked genes in the human chromosome.

Chromosomal abnormalities lead to missing chromosomes, extra chromosomes, deletions or additions to chromosomes.

Many chromosome abnormalities are not directly inherited but are caused by defects in meiosis.

Many chromosomal abnormalities lead to mental retardation; however, Turner syndrome is not one of them.

Autosomal dominant disorders are passed on in each generation to half of the affected person’s children.

Autosomal recessive disorders involve a carrier state that is an unaffected person who passes the disease on only if the other parent is also a carrier or has the disease.

X-linked recessive traits involve a variety of diseases that do not affect girls nearly as much as boys. Girls are often carriers of the disease.

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