Genetic Inheritance and Genetic Disorders

Flashcards covering key vocabulary and definitions related to genetic inheritance and genetic disorders.

Genetic Inheritance

The passing of traits to offspring from its parents or ancestors.

Autosomal Dominant Inheritance

A mode of inheritance where a child may inherit a genetic disease if one parent carries the faulty gene.

Autosomal Recessive Inheritance

A mode of inheritance where a child may only inherit a genetic disease if both parents pass along the same faulty gene.

X-Linked Inheritance

A genetic disorder caused by a gene located on the X chromosome.

Cystic Fibrosis (CF)

A monogenic disorder caused by mutations in the CFTR gene, leading to excessive fluid in the lungs and respiratory failure.

Phenylketonuria (PKU)

A metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to the inability to metabolize phenylalanine.

Aicardi Syndrome

A rare genetic syndrome characterized by absence of the corpus callosum and seizures in the form of infantile spasms.

Klinefelter Syndrome

A genetic disorder in males caused by an extra X chromosome, often resulting in infertility and other physical characteristics.

Turner Syndrome

A condition resulting from the absence of one X chromosome in females, characterized by short stature and underdeveloped ovaries.

Down Syndrome

A condition caused by the presence of an extra chromosome 21, leading to a range of physical and intellectual disabilities.