Overview of Genetics and Genetic Diseases

Which disorders have a known chromosomal inheritance pattern?

-Down Syndrome -Turner Syndrome -Edwards Syndrome

Which probabilities are associated with a man with hemophilia A having a child with a woman who does not have the disease and who is not a carrier?

-None of his sons will be affected. None of his sons would be affected because they receive only the Y chromosome from him, and all of his daughters will be carriers. -All of his daughters will be carriers. All of his daughters will be carriers, and none of his sons would be affected because they receive only the Y chromosome from him.

A child is born with a genetic disorder and is found to have 46 chromosomes. Which type of disorder could have caused the genetic disorder?

-Polygenic Disorder: are characterized by changes in multiple genes, but the number of chromosomes remains the normal 46. -Single Gene Disorder: are characterized by changes in one gene, but the number of chromosomes remains the normal 46. -Autosomal Recessive Disorder: are characterized by changes in single genes, but the number of chromosomes remains the normal 46. -Autosomal Dominant Disorder: are characterized by changes in single genes, but the number of chromosomes remains the normal 46.

Which genetic disorders can be understood using Punnett squares?

-Single Gene Disorder: are characterized by changes in one gene and can be understood using Punnett squares. -Autosomal Recessive Disorder: are characterized by changes in single genes and can be understood using Punnett squares. -Autosomal Dominant Disorder: are characterized by changes in single genes and can be understood using Punnett squares.

Which chromosomal abnormalities result in a form of Down syndrome?

-Trisomy 21: Down syndrome is most often characterized by three chromosomes, rather than the normal two, in the 21 position. This is also known as trisomy 21. -Translocation: Some forms of Down syndrome may have part of a chromosome 21 attached to another chromosome, which is an example of translocation.

An 18-year-old presents with a history of hip pain and is found to have avascular necrosis. Which genetic disorder may be present?

Sickle Cell Disease- is characterized by avascular necrosis, frequent painful crises, and acute chest syndrome.