NURS241 Lecture Notes - Lecture 1: Epicanthic Fold, Down Syndrome, Mast Cell
Document Summary
Genetic and congenital disorders: genetic- when something is wrong with the genes or chromosomes. Disorders pop out of nowhere with no family history: phenylketonuria, sickle cell disease, tay sachs, albinism, cystic fibrosis- disorder of the lungs, pancreas and digestive system. The y chromosome can"t mask a (cid:523)can"t be a carrier) dominant gene on an x chromosome, so if they inherit the gene they will be affected: inheritance pattern for single gene x-linked disorders. Person has a weak cry, small head, and profound mental retardation: chromosomal x-y disorders, turner"s- person has only 1 x chromosome, has female characteristics. Short stature, head/neck/thorax changes and sterility: klinefelter"s- person has xxy with characteristics of a male. Tall stature, decreased secondary sexual characteristics (facial hair), narrow shoulders, sterile. Otherwise, no health problems: triple x or double y- extremely rare, congenital disorders- develop prenatally and are present during birth, period of vulnerability- as the infant develops; during the first trimester all organ systems are developing.
