Genetic Disorders Flashcards
Homozygous
AA or aa
Heterozygous
Aa
Autosomal Dominant
single mutation results in condition regardless of sex
50% chance of inheritance
Autosomal Recessive
need 2 mutations to give condition
both parents normally heterozygotes
25% chance of inheritance
X linked
inherited from affected X chromosome, usually recessive
from mom
50% chance son inherits/ daughter is carrier
Marfan Syndrome
Autosomal Dominant
wingspan greater than height; pectus
Neurofibromatosis 1
Autosomal Dominant
tumors from peripheral nerves- neurofibromas
Autosomal Familial Adenomatous Polyposis
mutated APC gene- tumor suppressor
forms polyps in colon that can transform into colon cancer
CHRPE- 4+ bear tracks
Recessive Familial Adenomatous Polyposis
mutation of MYH gene- DNA repair
forms polyps that can become colon cancer
CHRPE- 4+ bear tracks
Hemophilia A
clotting Factor 8 deficiency
bleeding disordeer
X linked
Monosomies
missing chromosome
Trisomies
extra chromosomes
Triploidy
extra copy of all chromosomes
Translocation
chromosomes break and swap places
Deletion
loss of genetic materials
Inversion
chromosome breaks and reattaches in opposite direction
Teratogens
harmful to fetus
Kernofsky’s Law
anything at the right time of pregnancy at right dosage can be teratogenic
Fetal Alcohol Syndrome
CNS involvement
short palpebral fissures
thin upper lip
Teratogenic Organisms
toxoplasmosis
rubella
cytomegalovirus
herpes
Amniocentesis
uses fluid
after 1st trimester
less invasive than CVS
Chorionic Villi Sampling
CVS
uses tissue
during first trimester
invasive
