Genetic Disorders Flashcards
Describe and give examples of X linked genes
-Only expressed on the X chromosome Examples are... -color blindness -Duchane Muscular dystrophy -Multiple scherosis -Hemophillias (lack coagulation protein) -Immunoglobulin
How many x/sex linked genes do you need to have to express the disorder?
- 1 for males
- 2 for females
- if females have 1 they are a carrier
What is a point mutation
- When the DNA error is caused by the replacement of one base for another
- Monogenic disorder
- Ex.Sickle cell disease
Describe Sickle cell disease
-Defect in the coating of hemoglobin and hemoglobin sysnthesis
Describe Marfan Syndrome
-defect
- Defective gene is at position 21 on the long arm of chromosome 15 thatcauses the defect in collagen
- Autosomal dominant
Effects of marfans syndrome
- Have CT problems
- Prone to aneurysms
- Defect in collagen in extracellular matrix protein
What are S&S of Marfans syndrome
- Vision problems
- Lens siplacement
- Long slender fingers
- Elongated head with prominent forehead
- Shorter life span due to spontaneous rupture of anyeursims
Describe neurofibrinomytosis
- Autosomal dominant
- Causes thousands of neural tissue tumors (neuromas)
- Causes fibrinomen to be over suppressed or lack the tumor suppressor gene
Describe Downs Syndrome
-3 copies of chromosome 21
What is the most common genetic disorder in the US
Downs Syndrome
What are the chances of Downs Syndrome in a mother under 30
1 in 1,500
What are the chances of Downs Syndrome in a mother over 45
1 in 25
What are S&S of Downs Syndrome?
- Mental retardation
- Heart disease/valve problems/VSD
- Abnormal creases in the hand
- Shortened 5th finger
- Low nasal bridges
- Flat face
- Wide set eyes
- Shortened life span
- Diabetic
- Accelerated Alziehmers
This is a congenic disorder that occurs in males, and they have an extra X chromosome
Klienfelters disease
-47 XXY
What are S&S of Klienfelters disease
- -Lack body hair and secondary sex characteristics
- Gynacomastia
- Long arms
- Female hips
- Infertile
If a sperm with no sex chromosome fertilizes a normal ovum, this results in 45X, what is this syndrome known as?
Turners Syndrome
What are S&S of Turners Syndrome
- Females ONLY
- Sexually immature
- Infertile
- Wide webbed neck
- Flat chest
- Seperated nipples (farrrrr)
- Scant pubic hair
- Multiple skin pigmentation lesions
- -No periods
- Cardiac problems are common
The period from 28 week gestation to day 7 after borth
Prenatal
The first moth after birth
Neonatal
What viruses are ESPECIALLY harmful to the baby, and what can they lead to?
- Strep B viruses
- Pneumonia, meningitis, and strep
What is considered premature for a baby?
Anything before 37 weeks
What causes the majority of low birth weight?
Alcohol and smoking
How do you calculate your gestational age
Add 7 days to your last period, substract 3 months and add a year
= due date
What is the Apgar score and what is uincluded in it
-Helps determine the mortality rate within the first year of life Includes... -HR -Respiratory rate -Color -Suction -Muscle tone
Describe Hyaline membrane disease
- Respiratory distress in infants where they lack surfactants
- No surfactant= immature lungs, alveoi are not open, and need respiratory help
If you are born before ____ weeks, you can have hyaline membrane disease
Before 28 weeks
What is considered a low birth weight?
Less than 2500 g
-These babies usually are jaundice, small, and are more likely to have brain damage due to lack of complete maturation
What are common diseases for children that we vaccinate for?
- Polio
- Measles
- Croup
- Mumps
- Rubella
- Whooping cough
- Dipheria
Describe SIDS
-Sudden infant death syndrome
-Less than 6 months old
_males more than females
-Mother less than 20
-Low borth weight and prematurity
-Smoker
-Low socioeconomic status
-Prone sleeping position
What do teratomas contain
Embryonic germ cells
What is a common leukemia for children?
ALL
What are common brain and bone neoplasms for children?
- Sarcomas
- Osteosarcomas
- Neuroblastomas
- Meningiomas
Describe cystic fibrosis
- Effects the Na/Cl channels
- Linked to chromosome 7 genetic defect
- Defect in transporting Cl across an epithelial cell membrane
- Fall to attract Na and water
- Thick mucus results
- Obstructs glands and creates an environment for bacteria
- Lungs, liver, pancreas, biliary tree are effected
- Sometimes babies are failure to thrive
- They eat and don’t gain weight
