Test 1: Chapter 3,4,5 &6 Flashcards
What is a chromosome variation?
Sperm and ovum do not have 23 chromosomes each
What is down syndrome?
extra/altered 21st chromosome leading to severe mental retardation and physical malformations
What is Klinefelter’s syndrome?
XXY, extra X chromosome in males causing physical variations
What is fragile X syndrome?
A variation in the X chromosome that causes intellectual and learning disabilities and short life span (can happen in males and females)
What is Turner’s syndrome?
Missing X in females (0X instead of XX), intellectual disabilities and sexual underdevelopment
What is XYY syndrome?
Causes above average height in males
What is cystic fibrosis?
glandular dysfunction that interferes with mucus production, breathing, digestion. Shortens life span
What is hemophilia?
delayed clotting of blood causing internal and external bleeding
What is Huntington’s disease?
CNS deteriorates causing muscle deterioration and mental degradation
What is Phenylketonuria (PKU)?
A metabolic disorder that can cause muscle deterioration if left untreated
What is sickle cell anemia?
blood disorder that limits the oxygen supply of the body
What is spina bifida?
neural tube disorder that causes spine and brain variations
What is Tay Sachs disease?
deceleration of mental and physical development caused by an accumulation of lipids in the nervous system
What is amniocentesis?
amniotic fluid testing
What is ultrasound sonography?
high frequency sound waves produce an image of the fetus
What is chorionic villi sampling?
testing of small sample of the placenta
When do you get an ultrasound for the first time?
20 weeks