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Pathophysiology > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Describe and give examples of X linked genes

A 
-Only expressed on the X chromosome
Examples are...
-color blindness
-Duchane Muscular dystrophy 
-Multiple scherosis 
-Hemophillias (lack coagulation protein)
-Immunoglobulin
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2
Q

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

A
  • 1 for males
  • 2 for females
  • if females have 1 they are a carrier
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3
Q

What is a point mutation

A
  • When the DNA error is caused by the replacement of one base for another
  • Monogenic disorder
  • Ex.Sickle cell disease
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4
Q

Describe Sickle cell disease

A

-Defect in the coating of hemoglobin and hemoglobin sysnthesis

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5
Q

Describe Marfan Syndrome

-defect

A
  • Defective gene is at position 21 on the long arm of chromosome 15 thatcauses the defect in collagen
  • Autosomal dominant
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6
Q

Effects of marfans syndrome

A
  • Have CT problems
  • Prone to aneurysms
  • Defect in collagen in extracellular matrix protein
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7
Q

What are S&S of Marfans syndrome

A
  • Vision problems
  • Lens siplacement
  • Long slender fingers
  • Elongated head with prominent forehead
  • Shorter life span due to spontaneous rupture of anyeursims
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8
Q

Describe neurofibrinomytosis

A
  • Autosomal dominant
  • Causes thousands of neural tissue tumors (neuromas)
  • Causes fibrinomen to be over suppressed or lack the tumor suppressor gene
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9
Q

Describe Downs Syndrome

A

-3 copies of chromosome 21

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10
Q

What is the most common genetic disorder in the US

A

Downs Syndrome

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11
Q

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

A

1 in 1,500

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12
Q

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

A

1 in 25

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13
Q

What are S&S of Downs Syndrome?

A
  • 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
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14
Q

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

A

Klienfelters disease

-47 XXY

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15
Q

What are S&S of Klienfelters disease

A
  • -Lack body hair and secondary sex characteristics
  • Gynacomastia
  • Long arms
  • Female hips
  • Infertile
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16
Q

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

A

Turners Syndrome

17
Q

What are S&S of Turners Syndrome

A
  • 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
Q

The period from 28 week gestation to day 7 after borth

A

Prenatal

19
Q

The first moth after birth

A

Neonatal

20
Q

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

A
  • Strep B viruses

- Pneumonia, meningitis, and strep

21
Q

What is considered premature for a baby?

A

Anything before 37 weeks

22
Q

What causes the majority of low birth weight?

A

Alcohol and smoking

23
Q

How do you calculate your gestational age

A

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

24
Q

What is the Apgar score and what is uincluded in it

A 
-Helps determine the mortality rate within the first year of life
Includes...
-HR
-Respiratory rate
-Color
-Suction
-Muscle tone
25
Q

Describe Hyaline membrane disease

A
  • Respiratory distress in infants where they lack surfactants
  • No surfactant= immature lungs, alveoi are not open, and need respiratory help
26
Q

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

A

Before 28 weeks

27
Q

What is considered a low birth weight?

A

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
Q

What are common diseases for children that we vaccinate for?

A
  • Polio
  • Measles
  • Croup
  • Mumps
  • Rubella
  • Whooping cough
  • Dipheria
29
Q

Describe SIDS

A

-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
Q

What do teratomas contain

A

Embryonic germ cells

31
Q

What is a common leukemia for children?

A

ALL

32
Q

What are common brain and bone neoplasms for children?

A
  • Sarcomas
  • Osteosarcomas
  • Neuroblastomas
  • Meningiomas
33
Q

Describe cystic fibrosis

A
  • 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

Pathophysiology (18 decks)

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