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Chapter 7: Congenital and Genetic Disorders

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Chapter 7: Congenital and Genetic Disorders Pathophysiology Ms. Harris Congenital/Genes Congenital= defects or damage to a developing fetus that are present at birth ... – PowerPoint PPT presentation

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Title: Chapter 7: Congenital and Genetic Disorders


1
Chapter 7 Congenital and Genetic Disorders
  • Pathophysiology
  • Ms. Harris

2
Congenital/Genes
  • Congenital defects or damage to a developing
    fetus that are present at birth
  • Genetic abnormalities
  • Malformation
  • Chromosomal abnormalities
  • Genes- are segments of DNA that code for a
    specific trait. DNA is what makes up chromosomes.

3
(No Transcript)
4
Chromosomes
  • Humans have 23 pairs. (23 from egg, 23 from
    sperm that join together to form the zygote)
  • Karyotypes show all pairs
  • 1-22 Autosomes
  • 23rd pair sex chromosomes

5
Normal female
Normal male
6
Chromosomal Disorders
  • Can be diagnosed by identifying abnormalities on
    a karyotype.
  • Failure of chromosomes to separate in meiosis
    non-disjunction (result is either a monosomy or
    trisomy)
  • Translocations, deletions of chromosomes can also
    occur

7
  • Can you spot the abnormality?

8
Trisomy 21
  • More commonly called Down Syndrome
  • Causes mental retardation, shortened lifespan,
    oblique eye, smaller chin
  • 1 in 1000 births

9
  • Can you spot the abnormality?

10
Turners syndrome
  • Malfunctioning ovaries, sterility, heart defects,
    short stature
  • 1 in 2500 female births

11
  • Can you spot the abnormality?

12
  • Can you spot the abnormality?

13
Congenital Defects, cont.
  • Sometimes, just a single gene is affected.
  • Sometimes, they are multifactorial

14
Congenital Disorders, cont.
  • Can be inherited or caused by teratogenic agents
  • Things that cause damage to the fetus
  • Smoke, alcohol, etc.

15
Punnett Squares
  • Used to predict chances for having a child with
    one of the following types of disorders
  • Autosomal dominant, autosomal recessive,
    sex-linked dominant, sex-linked recessive

16
Punnett Square Review
  • Autosomal recessive(ex. Cystic fibrosis)
  • What are the chances that an affected female and
    a normal (homozygous) male will have a child with
    cystic fibrosis?

17
Punnett Square Practice
  • Autosomal dominant (ex. Huntingtons)
  • What is the probability that and affected
    (heterozygous) parent and a normal parent will
    have a child born with Huntingtons disease?

18
Punnett Square Practice
  • X- linked disorder (duchennes muscular
    dystrophy)
  • What is the probability that a carrier female and
    a normal male will have a child born with MD?

19
Pedigree Practice
20
Multifactorial Disorders
  • Lots of things factor into the expression of the
    disease
  • Many genes
  • Environmental factors
  • Etc.

21
Developmental Disorders
  • Anomalies can be caused by exposure to
    teratogens.
  • Mercury, alcohol, many chemicals
  • First 2 months are the most critical because
    cells are differentiating (organogenesis)
  • Cerebral Palsy

22
Diagnostic Tools
  • Amniocentesis for prenatal diagnosis
  • Neonatal blood testing following birth
  • Most hospitals make several tests mandatory

23
Gene therapy
  • Current Event Analysis
  • Name 3 cause/effects from the article.
  • Make a T-chart to list pros and cons of gene
    therapy. (think beyond the article!)
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