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Genetic Disorders
Sir Dennis Ar N. Espiritu
REVIEW:
Genetic Disorders:
• Cri du chat
• Down’s syndrome
• Edward’s syndrome
• Jacobsen syndrome
• Klinefelter’s syndrome
• Turner’s syndrome
What is genetic disorder?
• A genetic disorder is a disease caused by a
change (mutation) in an individual’s DNA
sequence.
• This includes birth defects, chronic
diseases, developmental problems, and
sensory deficits.
1. Cri du chat
• Is caused by deletion of part of
the short arm of chromosome
5.
• Present from birth, affected
babies make high-pitched cries
that sound like a cat.
• Also known as cat cry
syndrome or 5p syndrome.
2. Down syndrome
• Is caused by an extra copy of
chromosome 21 (trisomy 21).
• Even though people with
Down syndrome may act and
look similar, each person has
different abilities.
• Development is often delayed.
3. Patau syndrome
• Is a genetic disorder in which
an individual has 3 copies of
chromosome 13 (trisomy 13).
• It is a serious rare condition
and disrupts normal
development and usually lead
to miscarriage, stillbirth, or
baby dying shortly after birth.
4. Edwards syndrome
• Is a severe condition
associated with
abnormalities in many body
parts.
• Trisomy 18 (three copies of
chromosome number 18)
• About 99% die in infancy.
5. Jacobsen syndrome
• Is a condition characterized by
the deletion of genetic
material from chromosome
11.
• It includes bleeding disorder.
• Rare—about 1 in 100,000
babies.
Some traits:
• short stature
• malformation of heart,
kidney, etc.
• Intellectual disability
6. Klinefelter’s syndrome (XXY)
• Is the most frequent sex
chromosomal genetic disorder
that affect males.
• The male have an extra X
chromosome.
• Can experience breast growth,
breast cancer, osteoporosis,
infertility, and learning
difficulties.
7. Turner’s syndrome (X)
• Is a female-only genetic
disorder.
• The male only have 1 normal x
chromosome, rather than the
usual 2.
• Usually short stature and wide
neck, low hairline, teeth
problems, arms that turn out
slightly at the elbow.
genetic-disorders_pt.pptx

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genetic-disorders_pt.pptx

  • 3. Genetic Disorders: • Cri du chat • Down’s syndrome • Edward’s syndrome • Jacobsen syndrome • Klinefelter’s syndrome • Turner’s syndrome
  • 4. What is genetic disorder? • A genetic disorder is a disease caused by a change (mutation) in an individual’s DNA sequence. • This includes birth defects, chronic diseases, developmental problems, and sensory deficits.
  • 5. 1. Cri du chat • Is caused by deletion of part of the short arm of chromosome 5. • Present from birth, affected babies make high-pitched cries that sound like a cat. • Also known as cat cry syndrome or 5p syndrome.
  • 6.
  • 7. 2. Down syndrome • Is caused by an extra copy of chromosome 21 (trisomy 21). • Even though people with Down syndrome may act and look similar, each person has different abilities. • Development is often delayed.
  • 8.
  • 9. 3. Patau syndrome • Is a genetic disorder in which an individual has 3 copies of chromosome 13 (trisomy 13). • It is a serious rare condition and disrupts normal development and usually lead to miscarriage, stillbirth, or baby dying shortly after birth.
  • 10.
  • 11. 4. Edwards syndrome • Is a severe condition associated with abnormalities in many body parts. • Trisomy 18 (three copies of chromosome number 18) • About 99% die in infancy.
  • 12.
  • 13. 5. Jacobsen syndrome • Is a condition characterized by the deletion of genetic material from chromosome 11. • It includes bleeding disorder. • Rare—about 1 in 100,000 babies.
  • 14. Some traits: • short stature • malformation of heart, kidney, etc. • Intellectual disability
  • 15. 6. Klinefelter’s syndrome (XXY) • Is the most frequent sex chromosomal genetic disorder that affect males. • The male have an extra X chromosome. • Can experience breast growth, breast cancer, osteoporosis, infertility, and learning difficulties.
  • 16.
  • 17. 7. Turner’s syndrome (X) • Is a female-only genetic disorder. • The male only have 1 normal x chromosome, rather than the usual 2. • Usually short stature and wide neck, low hairline, teeth problems, arms that turn out slightly at the elbow.