Genetic Disorders

Question 1

Describe and give examples of X linked genes

Answer 1

-Only expressed on the X chromosome
Examples are...
-color blindness
-Duchane Muscular dystrophy 
-Multiple scherosis 
-Hemophillias (lack coagulation protein)
-Immunoglobulin

Question 2

How many x/sex linked genes do you need to have to express the disorder?

Answer 2

• 1 for males
• 2 for females
• if females have 1 they are a carrier

Question 3

What is a point mutation

Answer 3

• When the DNA error is caused by the replacement of one base for another
• Monogenic disorder
• Ex.Sickle cell disease

Question 4

Describe Sickle cell disease

Answer 4

-Defect in the coating of hemoglobin and hemoglobin sysnthesis

Question 5

Describe Marfan Syndrome

-defect

Answer 5

• Defective gene is at position 21 on the long arm of chromosome 15 thatcauses the defect in collagen
• Autosomal dominant

Question 6

Effects of marfans syndrome

Answer 6

• Have CT problems
• Prone to aneurysms
• Defect in collagen in extracellular matrix protein

Question 7

What are S&S of Marfans syndrome

Answer 7

• Vision problems
• Lens siplacement
• Long slender fingers
• Elongated head with prominent forehead
• Shorter life span due to spontaneous rupture of anyeursims

Question 8

Describe neurofibrinomytosis

Answer 8

• Autosomal dominant
• Causes thousands of neural tissue tumors (neuromas)
• Causes fibrinomen to be over suppressed or lack the tumor suppressor gene

Question 9

Describe Downs Syndrome

Answer 9

-3 copies of chromosome 21

Question 10

What is the most common genetic disorder in the US

Answer 10

Downs Syndrome

Question 11

What are the chances of Downs Syndrome in a mother under 30

Answer 11

1 in 1,500

Question 12

What are the chances of Downs Syndrome in a mother over 45

Answer 12

1 in 25

Question 13

What are S&S of Downs Syndrome?

Answer 13

• 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

Question 14

This is a congenic disorder that occurs in males, and they have an extra X chromosome

Answer 14

Klienfelters disease

-47 XXY

Question 15

What are S&S of Klienfelters disease

Answer 15

• -Lack body hair and secondary sex characteristics
• Gynacomastia
• Long arms
• Female hips
• Infertile

Question 16

If a sperm with no sex chromosome fertilizes a normal ovum, this results in 45X, what is this syndrome known as?

Answer 16

Turners Syndrome

Question 17

What are S&S of Turners Syndrome

Answer 17

• 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

Question 18

The period from 28 week gestation to day 7 after borth

Answer 18

Prenatal

Question 19

The first moth after birth

Answer 19

Neonatal

Question 20

What viruses are ESPECIALLY harmful to the baby, and what can they lead to?

Answer 20

• Strep B viruses

- Pneumonia, meningitis, and strep

Question 21

What is considered premature for a baby?

Answer 21

Anything before 37 weeks

Question 22

What causes the majority of low birth weight?

Answer 22

Alcohol and smoking

Question 23

How do you calculate your gestational age

Answer 23

Add 7 days to your last period, substract 3 months and add a year
= due date

Question 24

What is the Apgar score and what is uincluded in it

Answer 24

-Helps determine the mortality rate within the first year of life
Includes...
-HR
-Respiratory rate
-Color
-Suction
-Muscle tone

Question 25

Describe Hyaline membrane disease

Answer 25

- Respiratory distress in infants where they lack surfactants - No surfactant= immature lungs, alveoi are not open, and need respiratory help

Question 26

If you are born before ____ weeks, you can have hyaline membrane disease

Answer 26

Before 28 weeks

Question 27

What is considered a low birth weight?

Answer 27

Less than 2500 g | -These babies usually are jaundice, small, and are more likely to have brain damage due to lack of complete maturation

Question 28

What are common diseases for children that we vaccinate for?

Answer 28

- Polio - Measles - Croup - Mumps - Rubella - Whooping cough - Dipheria

Question 29

Describe SIDS

Answer 29

-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

Question 30

What do teratomas contain

Answer 30

Embryonic germ cells

Question 31

What is a common leukemia for children?

Answer 31

ALL

Question 32

What are common brain and bone neoplasms for children?

Answer 32

- Sarcomas - Osteosarcomas - Neuroblastomas - Meningiomas

Question 33

Describe cystic fibrosis

Answer 33

- 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