Genetic Disorders Flashcards Preview

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Flashcards in Genetic Disorders Deck (33)
1

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

2

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

3

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

4

Describe Sickle cell disease

-Defect in the coating of hemoglobin and hemoglobin sysnthesis

5

Describe Marfan Syndrome
-defect

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

6

Effects of marfans syndrome

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

7

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

8

Describe neurofibrinomytosis

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

9

Describe Downs Syndrome

-3 copies of chromosome 21

10

What is the most common genetic disorder in the US

Downs Syndrome

11

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

1 in 1,500

12

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

1 in 25

13

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

14

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

Klienfelters disease
-47 XXY

15

What are S&S of Klienfelters disease

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

16

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

Turners Syndrome

17

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

18

The period from 28 week gestation to day 7 after borth

Prenatal

19

The first moth after birth

Neonatal

20

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

-Strep B viruses
-Pneumonia, meningitis, and strep

21

What is considered premature for a baby?

Anything before 37 weeks

22

What causes the majority of low birth weight?

Alcohol and smoking

23

How do you calculate your gestational age

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

24

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

25

Describe Hyaline membrane disease

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

26

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

Before 28 weeks

27

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

28

What are common diseases for children that we vaccinate for?

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

29

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

30

What do teratomas contain

Embryonic germ cells

31

What is a common leukemia for children?

ALL

32

What are common brain and bone neoplasms for children?

-Sarcomas
-Osteosarcomas
-Neuroblastomas
-Meningiomas

33

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