cytogen (genetic disorder) Flashcards
study of suffering
pathophysiology
occurs when a mutation affects your genes; and/or when you have the wrong amount of genetic material
Genetic Disorder
affects the structures that hold your genes/DNA within each cell
→ with these conditions, people are missing or have duplicated chromosome material.
Chromosomal
Person is born with an extra copy of chromosome 21
Down Syndrome
People AMAB (Assigned Male at Birth) have an additional X chromosome
Klinefelter Syndrome
Only affects people AFAB (Assigned Female at Birth)
One of the two of the x chromosomes is missing, either partially or completely
Turner Syndrome
developed Turner Syndrome
Henry H. Turner
stem from a combination of gene mutations and other factors:
Chemical exposure
Diet
Certain medications
Tobacco or alcohol use
Complex
A neurological and developmental disorder that affects how people interact with others, communicate, learn, and behave
Autism Spectrum Disorder
Blood sugar is too high
Occurs either when the pancreas does not procedure enough insulin or when the body cannot effectively use the insulin it produces.
Diabetes
occurs from a single gene mutation
Single Gene (Monogenic)
An inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body
Sticky, thick mucus to build up in your body
Mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene
Protein helps to maintain the balance of salt and water on many surfaces in the body
Cystic Fibrosis
One of the most severe forms of inherited muscular dystrophies
Duchenne Muscular Dystrophy
Protein transfers the force of muscle contraction from the inside of the muscle cell outward to the
Dystrophin
occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation
Inversion
